From 562f13b724a775e18690976ce7e9d77d4bb5a85c Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 12 Dec 2023 15:01:33 +0000 Subject: [PATCH 01/10] WIP - allow alternate target ontologies --- README.md | 1 + bin/evaluation/check_latest_mappings.py | 4 +- bin/generate_annotated_xml.py | 4 +- bin/trait_mapping/create_efo_table.py | 4 +- .../create_table_for_manual_curation.py | 33 +++++----- bin/trait_mapping/process_traits.py | 11 ++-- cmat/output_generation/annotated_clinvar.py | 61 ++++++++++--------- .../clinvar_to_evidence_strings.py | 20 +++--- cmat/output_generation/consequence_type.py | 4 +- .../output_generation/evaluation/ols_utils.py | 36 +++++------ cmat/trait_mapping/main.py | 4 +- cmat/trait_mapping/ols.py | 45 +++++++------- cmat/trait_mapping/output.py | 17 +++--- cmat/trait_mapping/oxo.py | 27 ++++---- cmat/trait_mapping/trait.py | 4 +- cmat/trait_mapping/zooma.py | 25 ++++---- mappings/latest_mappings.tsv | 1 + pipelines/annotation_pipeline.nf | 2 +- pipelines/export_curation_spreadsheet.nf | 1 + pipelines/generate_curation_spreadsheet.nf | 1 + .../test_clinvar_to_evidence_strings.py | 2 +- .../trait_mapping/resources/test_ols_data.py | 8 +-- .../trait_mapping/resources/test_oxo_data.py | 10 +-- tests/trait_mapping/test_main.py | 3 +- tests/trait_mapping/test_ols.py | 8 +-- tests/trait_mapping/test_output.py | 8 +-- tests/trait_mapping/test_oxo.py | 12 ++-- tests/trait_mapping/test_trait.py | 6 +- tests/trait_mapping/test_zooma.py | 6 +- 29 files changed, 194 insertions(+), 174 deletions(-) diff --git a/README.md b/README.md index 87c0676b..708ef14a 100644 --- a/README.md +++ b/README.md @@ -105,6 +105,7 @@ nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ --comments ${CURATOR_COMMENTS} \ -resume ``` +! TODO document use of other ontologies https://www.ebi.ac.uk/ols4/ontologies By default, the pipeline will download and map the latest ClinVar XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. diff --git a/bin/evaluation/check_latest_mappings.py b/bin/evaluation/check_latest_mappings.py index de0e1be8..3ed5a7dd 100644 --- a/bin/evaluation/check_latest_mappings.py +++ b/bin/evaluation/check_latest_mappings.py @@ -3,13 +3,13 @@ import csv import multiprocessing -from cmat.output_generation.clinvar_to_evidence_strings import load_efo_mapping +from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping from cmat.output_generation.evaluation.ols_utils import fetch_eval_data def main(mapping_file, output_file): """Load mapping file, map identifiers to synonyms in OLS, and dump results to TSV.""" - mappings = load_efo_mapping(mapping_file) + mappings = load_ontology_mapping(mapping_file) all_uris = [uri for v in mappings.values() for uri, _ in v] process_pool = multiprocessing.Pool(processes=24) annotated_traits = [ diff --git a/bin/generate_annotated_xml.py b/bin/generate_annotated_xml.py index 4fa98432..d942b17e 100644 --- a/bin/generate_annotated_xml.py +++ b/bin/generate_annotated_xml.py @@ -5,7 +5,7 @@ parser = argparse.ArgumentParser('Generates annotated ClinVar XML from ClinVar data and trait mappings') parser.add_argument('--clinvar-xml', help='ClinVar XML release', required=True) -parser.add_argument('--efo-mapping', help='Disease string to ontology mappings', required=True) +parser.add_argument('--trait-mapping', help='Disease string to ontology mappings', required=True) parser.add_argument('--gene-mapping', help='Variant to gene & consequence mappings', required=True) parser.add_argument('--output-xml', help='Output XML file', required=True) parser.add_argument('--eval-gene-file', help='Gene mappings for evaluation', required=False) @@ -16,6 +16,6 @@ if __name__ == '__main__': args = parser.parse_args() generate_annotated_clinvar_xml( - clinvar_xml_file=args.clinvar_xml, efo_mapping_file=args.efo_mapping, gene_mapping_file=args.gene_mapping, + clinvar_xml_file=args.clinvar_xml, trait_mapping_file=args.trait_mapping, gene_mapping_file=args.gene_mapping, output_xml_file=args.output_xml, eval_gene_file=args.eval_gene_file, eval_xref_file=args.eval_xref_file, eval_latest_file=args.eval_latest_file) diff --git a/bin/trait_mapping/create_efo_table.py b/bin/trait_mapping/create_efo_table.py index 5af08efa..2783cc1b 100644 --- a/bin/trait_mapping/create_efo_table.py +++ b/bin/trait_mapping/create_efo_table.py @@ -4,7 +4,7 @@ import re import requests -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER from requests import HTTPError from retry import retry @@ -31,7 +31,7 @@ def ols_url_template(ontology, term): # OLS url to query for a term details - return f'{OLS_EFO_SERVER}/api/ontologies/{ontology}/terms?iri={term}' + return f'{OLS_SERVER}/api/ontologies/{ontology}/terms?iri={term}' def oxo_url_template(curie): diff --git a/bin/trait_mapping/create_table_for_manual_curation.py b/bin/trait_mapping/create_table_for_manual_curation.py index 7e70dc8e..5d9e56a8 100755 --- a/bin/trait_mapping/create_table_for_manual_curation.py +++ b/bin/trait_mapping/create_table_for_manual_curation.py @@ -4,29 +4,29 @@ import pandas as pd -from cmat.output_generation.clinvar_to_evidence_strings import load_efo_mapping +from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping from cmat.trait_mapping.ols import ( - get_ontology_label_from_ols, is_current_and_in_efo, is_in_efo, get_replacement_term, + get_ontology_label_from_ols, is_current_and_in_ontology, is_in_ontology, get_replacement_term, ) -def previous_and_replacement_mappings(trait_name, previous_mappings): +def previous_and_replacement_mappings(trait_name, previous_mappings, ontology): if trait_name not in previous_mappings: yield '', '' return for uri, label in previous_mappings[trait_name]: - trait_status = get_trait_status(uri) + trait_status = get_trait_status(uri, ontology) trait_string = '|'.join([uri, label, 'NOT_SPECIFIED', 'previously-used', trait_status]) - replacement_string = find_replacement_mapping(uri) + replacement_string = find_replacement_mapping(uri, ontology) yield trait_string, replacement_string -def find_replacement_mapping(previous_uri): - replacement_uri = get_replacement_term(previous_uri) +def find_replacement_mapping(previous_uri, ontology): + replacement_uri = get_replacement_term(previous_uri, ontology) if not replacement_uri: return '' label = get_ontology_label(replacement_uri) - trait_status = get_trait_status(replacement_uri) + trait_status = get_trait_status(replacement_uri, ontology) trait_string = '|'.join([replacement_uri, label, 'NOT_SPECIFIED', 'replacement', trait_status]) return trait_string @@ -43,11 +43,11 @@ def get_ontology_label(uri): return label if label is not None else '' -def get_trait_status(uri): - uri_is_current_and_in_efo = is_current_and_in_efo(uri) - uri_in_efo = is_in_efo(uri) - if uri_in_efo: - trait_status = 'EFO_CURRENT' if uri_is_current_and_in_efo else 'EFO_OBSOLETE' +def get_trait_status(uri, ontology): + uri_is_current_and_in_ontology = is_current_and_in_ontology(uri, ontology) + uri_in_ontology = is_in_ontology(uri, ontology) + if uri_in_ontology: + trait_status = f'{ontology.upper()}_CURRENT' if uri_is_current_and_in_ontology else f'{ontology.upper()}_OBSOLETE' else: trait_status = 'NOT_CONTAINED' return trait_status @@ -68,10 +68,12 @@ def get_trait_status(uri): parser.add_argument( '-o', '--output', help='Output TSV to be loaded in Google Sheets for manual curation') + parser.add_argument('--target-ontology', help='ID of target ontology (default EFO, for allowable values see' + 'https://www.ebi.ac.uk/ols/ontologies)', default='EFO') args = parser.parse_args() # Load all previous mappings: ClinVar trait name to ontology URI - previous_mappings = load_efo_mapping(args.previous_mappings) + previous_mappings = load_ontology_mapping(args.previous_mappings) # Load previous curator comments: ClinVar trait name to comment string try: @@ -92,7 +94,8 @@ def get_trait_status(uri): # Use maximum of 50 mappings to improve Google Sheets performance mappings = fields[3:53] exact_mapping = find_exact_mapping(trait_name, mappings) - for previous_mapping, replacement_mapping in previous_and_replacement_mappings(trait_name, previous_mappings): + for previous_mapping, replacement_mapping in previous_and_replacement_mappings(trait_name, previous_mappings, + args.target_ontology): rows.append([trait_name, trait_freq, notes, previous_mapping, exact_mapping, replacement_mapping] + mappings) diff --git a/bin/trait_mapping/process_traits.py b/bin/trait_mapping/process_traits.py index dfb41ddf..8e5b0704 100644 --- a/bin/trait_mapping/process_traits.py +++ b/bin/trait_mapping/process_traits.py @@ -9,7 +9,7 @@ def launch(): main.process_traits(parser.input_traits_filepath, parser.output_mappings_filepath, parser.output_curation_filepath, parser.filters, parser.zooma_host, - parser.oxo_target_list, parser.oxo_distance) + parser.oxo_target_list, parser.oxo_distance, parser.target_ontology) class ArgParser: @@ -27,8 +27,8 @@ def __init__(self, argv): help="path to output file for mappings") parser.add_argument("-c", dest="output_curation_filepath", required=True, help="path to output file for curation") - parser.add_argument("-n", dest="ontologies", default="efo,ordo,hp,mondo", - help="ontologies to use in query") + parser.add_argument("-n", dest="zooma_ontologies", default="efo,ordo,hp,mondo", + help="ontologies to use in zooma query") parser.add_argument("-r", dest="required", default="cttv,eva-clinvar,clinvar-xrefs,gwas", help="data sources to use in query.") parser.add_argument("-p", dest="preferred", default="eva-clinvar,cttv,gwas,clinvar-xrefs", @@ -39,6 +39,8 @@ def __init__(self, argv): help="target ontologies to use with OxO") parser.add_argument("-d", dest="oxo_distance", default=3, help="distance to use to query OxO.") + parser.add_argument('--target-ontology', help='ID of target ontology (default EFO, for allowable values see' + 'https://www.ebi.ac.uk/ols/ontologies)', default='EFO') args = parser.parse_args(args=argv[1:]) @@ -46,13 +48,14 @@ def __init__(self, argv): self.output_mappings_filepath = args.output_mappings_filepath self.output_curation_filepath = args.output_curation_filepath - self.filters = {"ontologies": args.ontologies, + self.filters = {"ontologies": args.zooma_ontologies, "required": args.required, "preferred": args.preferred} self.zooma_host = args.zooma_host self.oxo_target_list = [target.strip() for target in args.oxo_target_list.split(",")] self.oxo_distance = args.oxo_distance + self.target_ontology = args.target_ontology if __name__ == '__main__': diff --git a/cmat/output_generation/annotated_clinvar.py b/cmat/output_generation/annotated_clinvar.py index 3c17afe5..29510b45 100644 --- a/cmat/output_generation/annotated_clinvar.py +++ b/cmat/output_generation/annotated_clinvar.py @@ -6,7 +6,7 @@ from cmat.clinvar_xml_io import ClinVarTrait, ClinVarRecordMeasure, ClinVarDataset, ClinVarRecord from cmat.clinvar_xml_io.xml_parsing import iterate_rcv_from_xml -from cmat.output_generation.clinvar_to_evidence_strings import load_efo_mapping, get_consequence_types +from cmat.output_generation.clinvar_to_evidence_strings import load_ontology_mapping, get_consequence_types from cmat.output_generation import consequence_type as CT from cmat.output_generation.evaluation.set_metrics import SetComparisonMetrics @@ -14,14 +14,14 @@ class AnnotatingClinVarDataset(ClinVarDataset): - """This class provides the ability to parse ClinVar records (RCVs) and annotate them with EFO mappings and + """This class provides the ability to parse ClinVar records (RCVs) and annotate them with ontology mappings and consequence mappings on the fly.""" - def __init__(self, clinvar_xml, string_to_efo_mappings, variant_to_gene_mappings, + def __init__(self, clinvar_xml, string_to_ontology_mappings, variant_to_gene_mappings, eval_gene_mappings=None, eval_xref_mappings=None, eval_latest_mappings=None): super().__init__(clinvar_xml) self.header_attr['ProcessedBy'] = PROCESSOR - self.string_to_efo_mappings = string_to_efo_mappings + self.string_to_ontology_mappings = string_to_ontology_mappings self.variant_to_gene_mappings = variant_to_gene_mappings self.eval_gene_mappings = eval_gene_mappings @@ -117,7 +117,7 @@ def annotate_and_count_measure(self, record): def annotate_and_count_traits(self, record): for trait in record.traits_with_valid_names: - # Get current EFO ids + # Get current EFO ids - only used for evaluation existing_efo_ids = set() for db, iden, _ in trait.current_efo_aligned_xrefs: curie = OntologyUri(iden, db).curie @@ -125,12 +125,12 @@ def annotate_and_count_traits(self, record): existing_efo_ids.add(curie) # Add annotations - only based on preferred name - efo_ids = [ - EfoMappedClinVarTrait.format_efo_id(efo_id) - for efo_id, efo_label - in self.string_to_efo_mappings.get(trait.preferred_or_other_valid_name.lower(), []) + target_ontology_ids = [ + OntologyMappedClinVarTrait.format_ontology_id(ontology_id) + for ontology_id, ontology_label + in self.string_to_ontology_mappings.get(trait.preferred_or_other_valid_name.lower(), []) ] - trait.add_efo_mappings(efo_ids) + trait.add_ontology_mappings(target_ontology_ids) # Evaluation if self.eval_xref_mappings and self.eval_latest_mappings: @@ -145,7 +145,7 @@ def annotate_and_count_traits(self, record): existing_current_efo_ids.add(cv_id) annotated_current_efo_ids = set() - for efo_id in efo_ids: + for efo_id in target_ontology_ids: # Check whether annotated ID is obsolete self.obsolete_counts['cmat_total'] += 1 @@ -210,25 +210,26 @@ def print_counter(counter): class AnnotatedClinVarRecord(ClinVarRecord): def __init__(self, rcv): - super().__init__(rcv, trait_class=EfoMappedClinVarTrait, measure_class=EnsemblAnnotatedClinVarMeasure) + super().__init__(rcv, trait_class=OntologyMappedClinVarTrait, measure_class=EnsemblAnnotatedClinVarMeasure) -class EfoMappedClinVarTrait(ClinVarTrait): +class OntologyMappedClinVarTrait(ClinVarTrait): - def add_efo_mappings(self, efo_ids): - efo_elts = [] - for efo_id in efo_ids: - efo_id = self.format_efo_id(efo_id) + def add_ontology_mappings(self, ontology_ids): + ontology_elts = [] + for ontology_id in ontology_ids: + ontology_id = self.format_ontology_id(ontology_id) # Include Status attribute so this isn't included among current xrefs - efo_elts.append(ET.Element('XRef', attrib={ - 'ID': efo_id, 'DB': 'EFO', 'Status': 'annotated', 'providedBy': PROCESSOR})) - self.trait_xml.extend(efo_elts) + ontology_elts.append(ET.Element('XRef', attrib={ + 'ID': ontology_id, 'DB': 'EFO', 'Status': 'annotated', 'providedBy': PROCESSOR})) + # TODO change attrib - parse from mappings file header e.g. #ontology=EFO + self.trait_xml.extend(ontology_elts) @staticmethod - def format_efo_id(efo_id): - if efo_id.startswith('http'): - return efo_id.split('/')[-1].replace('_', ':') - return efo_id + def format_ontology_id(ontology_id): + if ontology_id.startswith('http'): + return ontology_id.split('/')[-1].replace('_', ':') + return ontology_id class EnsemblAnnotatedClinVarMeasure(ClinVarRecordMeasure): @@ -308,22 +309,22 @@ def string_to_set(s): return set(x for x in re.sub(r"{|}|'", '', s).split(', ') if x) -def generate_annotated_clinvar_xml(clinvar_xml_file, efo_mapping_file, gene_mapping_file, output_xml_file, +def generate_annotated_clinvar_xml(clinvar_xml_file, trait_mapping_file, gene_mapping_file, output_xml_file, eval_gene_file=None, eval_xref_file=None, eval_latest_file=None): - """Generate an annotated XML file of ClinVar RCVs based on EFO mappings file and gene mapping file (as documented in + """Generate an annotated XML file of ClinVar RCVs based on trait mapping and gene mapping files (as documented in clinvar_to_evidence_strings).""" - string_to_efo_mappings = load_efo_mapping(efo_mapping_file) + string_to_ontology_mappings = load_ontology_mapping(trait_mapping_file) variant_to_gene_mappings = CT.process_consequence_type_file(gene_mapping_file) - # Need both files to do an evaluation + # Need all files to do an evaluation if eval_gene_file and eval_xref_file and eval_latest_file: eval_gene_mappings = load_evaluation_gene_mappings(eval_gene_file) eval_xref_mappings = load_evaluation_xref_mappings(eval_xref_file) eval_latest_mappings = load_evaluation_latest(eval_latest_file) - dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_efo_mappings, variant_to_gene_mappings, + dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_ontology_mappings, variant_to_gene_mappings, eval_gene_mappings=eval_gene_mappings, eval_xref_mappings=eval_xref_mappings, eval_latest_mappings=eval_latest_mappings) else: - dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_efo_mappings, variant_to_gene_mappings) + dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_ontology_mappings, variant_to_gene_mappings) dataset.write(output_xml_file) dataset.report() diff --git a/cmat/output_generation/clinvar_to_evidence_strings.py b/cmat/output_generation/clinvar_to_evidence_strings.py index 8b9dc15b..7c34e3dd 100644 --- a/cmat/output_generation/clinvar_to_evidence_strings.py +++ b/cmat/output_generation/clinvar_to_evidence_strings.py @@ -113,7 +113,7 @@ def validate_evidence_string(ev_string, ot_schema_contents): def launch_pipeline(clinvar_xml_file, efo_mapping_file, gene_mapping_file, ot_schema_file, dir_out): os.makedirs(dir_out, exist_ok=True) - string_to_efo_mappings = load_efo_mapping(efo_mapping_file) + string_to_efo_mappings = load_ontology_mapping(efo_mapping_file) variant_to_gene_mappings = CT.process_consequence_type_file(gene_mapping_file) report = clinvar_to_evidence_strings( @@ -336,22 +336,22 @@ def write_string_list_to_file(string_list, filename): out_file.write('\n'.join(string_list)) -def load_efo_mapping(efo_mapping_file): - trait_2_efo = defaultdict(list) - n_efo_mappings = 0 +def load_ontology_mapping(trait_mapping_file): + trait_2_ontology = defaultdict(list) + n_ontology_mappings = 0 - with open(efo_mapping_file, 'rt') as f: + with open(trait_mapping_file, 'rt') as f: for line in f: line = line.rstrip() if line.startswith('#') or not line: continue line_list = line.split('\t') - assert len(line_list) == 3, f'Incorrect string to EFO mapping format for line {line}' + assert len(line_list) == 3, f'Incorrect string to ontology mapping format for line {line}' clinvar_name, ontology_id, ontology_label = line_list - trait_2_efo[clinvar_name.lower()].append((ontology_id, ontology_label)) - n_efo_mappings += 1 - logger.info('{} EFO mappings loaded'.format(n_efo_mappings)) - return trait_2_efo + trait_2_ontology[clinvar_name.lower()].append((ontology_id, ontology_label)) + n_ontology_mappings += 1 + logger.info('{} ontology mappings loaded'.format(n_ontology_mappings)) + return trait_2_ontology def get_terms_from_file(terms_file_path): diff --git a/cmat/output_generation/consequence_type.py b/cmat/output_generation/consequence_type.py index 2b4097ff..dc29a676 100644 --- a/cmat/output_generation/consequence_type.py +++ b/cmat/output_generation/consequence_type.py @@ -5,7 +5,7 @@ from retry import retry from cmat.consequence_prediction.common.vep import get_severity_ranking -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER logger = logging.getLogger(__package__) @@ -55,7 +55,7 @@ def process_consequence_type_file(snp_2_gene_file, consequence_type_dict=None): def get_so_accession_dict(page_size=500): """Get name and accession of all hierarchical descendents of sequence_variant in the Sequence Ontology.""" sequence_variant_id = 'SO:0001060' - url = f'{OLS_EFO_SERVER}/api/ontologies/so/hierarchicalDescendants?id={sequence_variant_id}&size={page_size}' + url = f'{OLS_SERVER}/api/ontologies/so/hierarchicalDescendants?id={sequence_variant_id}&size={page_size}' has_next = True results = [] while has_next: diff --git a/cmat/output_generation/evaluation/ols_utils.py b/cmat/output_generation/evaluation/ols_utils.py index b63e9050..961f5a8c 100644 --- a/cmat/output_generation/evaluation/ols_utils.py +++ b/cmat/output_generation/evaluation/ols_utils.py @@ -11,12 +11,12 @@ @lru_cache -def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False): +def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False, target_ontology='EFO'): """ Query OLS for this ontology identifier and extract the following: - - Whether the term is obsolete in EFO + - Whether the term is obsolete in target ontology (default EFO) - Synonyms (replacement terms or exact matches) - - Parents and children in EFO + - Parents and children in target ontology """ if db_iden: db, iden = db_iden @@ -28,7 +28,7 @@ def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False): return None curie = OntologyUri.uri_to_curie(ontology_uri) - # Defaults to return if OLS query fails or no term in EFO + # Defaults to return if OLS query fails or no term in target ontology is_obsolete = False synonyms = {} parents = {} @@ -42,8 +42,8 @@ def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False): json_response = json_request(url.replace('/ols4/', '/ols/')) if json_response and '_embedded' in json_response: for term in json_response['_embedded']['terms']: - # Get only EFO terms (even if imported) - if term['ontology_name'] == 'efo': + # Get only target ontology terms (even if imported) + if term['ontology_name'] == target_ontology: synonyms, is_obsolete = extract_synonyms_and_obsolete(term) # If requested, fetch the parents and children of this term if include_neighbors: @@ -54,28 +54,28 @@ def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False): return curie, is_obsolete, synonyms -def extract_synonyms_and_obsolete(efo_term): - synonyms = {efo_term['iri']} - is_obsolete = efo_term['is_obsolete'] +def extract_synonyms_and_obsolete(ontology_term): + synonyms = {ontology_term['iri']} + is_obsolete = ontology_term['is_obsolete'] # Add replacement term if this one is obsolete - if is_obsolete and efo_term['term_replaced_by']: - synonyms.add(efo_term['term_replaced_by']) + if is_obsolete and ontology_term['term_replaced_by']: + synonyms.add(ontology_term['term_replaced_by']) # Also add exact matches - if 'exactMatch' in efo_term['annotation']: - synonyms.update(efo_term['annotation']['exactMatch']) - if 'has exact match' in efo_term['annotation']: - synonyms.update(efo_term['annotation']['has exact match']) + if 'exactMatch' in ontology_term['annotation']: + synonyms.update(ontology_term['annotation']['exactMatch']) + if 'has exact match' in ontology_term['annotation']: + synonyms.update(ontology_term['annotation']['has exact match']) - # Synonyms contains current EFO-included URIs, convert to DB:ID style + # Synonyms contains current included URIs, convert to DB:ID style synonyms = {OntologyUri.uri_to_curie(s) for s in synonyms} # Filter out Nones synonyms = {s for s in synonyms if s is not None} return synonyms, is_obsolete -def extract_parents_and_children(efo_term): - links = efo_term['_links'] +def extract_parents_and_children(ontology_term): + links = ontology_term['_links'] parents = get_all_term_curies(links['parents']['href']) if 'parents' in links else {} children = get_all_term_curies(links['children']['href']) if 'children' in links else {} return parents, children diff --git a/cmat/trait_mapping/main.py b/cmat/trait_mapping/main.py index 9e9da7e4..e4f262bd 100644 --- a/cmat/trait_mapping/main.py +++ b/cmat/trait_mapping/main.py @@ -103,7 +103,7 @@ def parse_traits(input_filepath, output_traits_filepath, output_for_platform=Non def process_traits(traits_filepath, output_mappings_filepath, output_curation_filepath, filters, zooma_host, - oxo_target_list, oxo_distance): + oxo_target_list, oxo_distance, ontology): trait_list = read_traits_from_csv(traits_filepath) logger.info(f'Read {len(trait_list)} traits from file') with open(output_mappings_filepath, "w", newline='') as mapping_file, \ @@ -124,7 +124,7 @@ def process_traits(traits_filepath, output_mappings_filepath, output_curation_fi logger.info('Writing output with the processed traits') finished_source_counts = Counter() for trait in processed_trait_list: - output_trait(trait, mapping_writer, curation_writer, finished_source_counts) + output_trait(trait, mapping_writer, curation_writer, finished_source_counts, ontology) logger.info('Finished processing trait names') logger.info(f'Source counts for finished mappings: {finished_source_counts}') diff --git a/cmat/trait_mapping/ols.py b/cmat/trait_mapping/ols.py index 1244d5a7..3acfdfee 100644 --- a/cmat/trait_mapping/ols.py +++ b/cmat/trait_mapping/ols.py @@ -7,7 +7,7 @@ from cmat.trait_mapping.utils import json_request, ServerError -OLS_EFO_SERVER = 'https://www.ebi.ac.uk/ols4' +OLS_SERVER = 'https://www.ebi.ac.uk/ols4' # The setting for local OLS installation should be uncommented if necessary. Note that the link # for the local deployment is different from the production link in three regards: (1) it must use # HTTP instead of HTTPS; (2) it must include the port which you used when deploying the Docker @@ -19,7 +19,7 @@ def build_ols_query(ontology_uri: str) -> str: """Build a url to query OLS for a given ontology uri.""" - return "{}/api/terms?iri={}".format(OLS_EFO_SERVER, ontology_uri) + return "{}/api/terms?iri={}".format(OLS_SERVER, ontology_uri) @lru_cache(maxsize=16384) @@ -61,30 +61,31 @@ def double_encode_uri(uri: str) -> str: @retry(exceptions=(ConnectionError, ServerError), logger=logger, tries=8, delay=2, backoff=1.2, jitter=(1, 3)) -def ols_efo_query(uri: str) -> requests.Response: +def ols_ontology_query(uri: str, ontology: str = 'EFO') -> requests.Response: """ - Query EFO using OLS for a given ontology uri, returning the response from the request. + Query target ontology using OLS for a given ontology uri, returning the response from the request. - :param uri: Ontology uri to use in querying EFO using OLS + :param uri: Ontology uri to use in querying target ontology using OLS + :param ontology: ID of target ontology to query (default EFO) :return: Response from OLS """ double_encoded_uri = double_encode_uri(uri) - response = requests.get( - "{}/api/ontologies/efo/terms/{}".format(OLS_EFO_SERVER, double_encoded_uri)) + response = requests.get(f"{OLS_SERVER}/api/ontologies/{ontology}/terms/{double_encoded_uri}") if 500 <= response.status_code < 600: raise ServerError return response @lru_cache(maxsize=16384) -def is_current_and_in_efo(uri: str) -> bool: +def is_current_and_in_ontology(uri: str, ontology: str = 'EFO') -> bool: """ - Checks whether given ontology uri is a valid and non-obsolete term in EFO. + Checks whether given ontology uri is a valid and non-obsolete term in target ontology. - :param uri: Ontology uri to use in querying EFO using OLS - :return: Boolean value, true if ontology uri is valid and non-obsolete term in EFO + :param uri: Ontology uri to use in querying target ontology using OLS + :param ontology: ID of target ontology to query (default EFO) + :return: Boolean value, true if ontology uri is valid and non-obsolete term in target ontology """ - response = ols_efo_query(uri) + response = ols_ontology_query(uri, ontology) if response.status_code != 200: return False response_json = response.json() @@ -92,26 +93,28 @@ def is_current_and_in_efo(uri: str) -> bool: @lru_cache(maxsize=16384) -def is_in_efo(uri: str) -> bool: +def is_in_ontology(uri: str, ontology: str = 'EFO') -> bool: """ - Checks whether given ontology uri is a valid term in EFO. + Checks whether given ontology uri is a valid term in target ontology. - :param uri: Ontology uri to use in querying EFO using OLS - :return: Boolean value, true if ontology uri is valid term in EFO + :param uri: Ontology uri to use in querying target ontology using OLS + :param ontology: ID of target ontology to query (default EFO) + :return: Boolean value, true if ontology uri is valid term in target ontology """ - response = ols_efo_query(uri) + response = ols_ontology_query(uri, ontology) return response.status_code == 200 @lru_cache(maxsize=16384) -def get_replacement_term(uri: str) -> str: +def get_replacement_term(uri: str, ontology: str = 'EFO') -> str: """ - Finds replacement term in EFO (if present) for the given ontology uri. + Finds replacement term in target ontology (if present) for the given ontology uri. - :param uri: Ontology uri to use in querying EFO using OLS + :param uri: Ontology uri to use in querying target ontology using OLS + :param ontology: ID of target ontology to query (default EFO) :return: Replacement term URI or empty string if not obsolete """ - response = ols_efo_query(uri) + response = ols_ontology_query(uri, ontology) if response.status_code != 200: return "" response_json = response.json() diff --git a/cmat/trait_mapping/output.py b/cmat/trait_mapping/output.py index 34b7fe10..85d1ac4b 100644 --- a/cmat/trait_mapping/output.py +++ b/cmat/trait_mapping/output.py @@ -17,7 +17,7 @@ def output_trait_mapping(trait: Trait, mapping_writer: csv.writer, finished_sour zooma_mapping = None for zooma_result in trait.zooma_result_list: for zm in zooma_result.mapping_list: - if (zm.in_efo and zm.is_current and ontology_entry.uri == zm.uri + if (zm.in_ontology and zm.is_current and ontology_entry.uri == zm.uri and ontology_entry.label == zm.ontology_label): zooma_mapping = zm break @@ -31,18 +31,19 @@ def get_mappings_for_curation(result_list) -> list: curation_mapping_list = [] for result in result_list: for mapping in result.mapping_list: - if (mapping.in_efo and mapping.is_current) or (not mapping.in_efo): + if (mapping.in_ontology and mapping.is_current) or (not mapping.in_ontology): curation_mapping_list.append(mapping) curation_mapping_list.sort(reverse=True) return curation_mapping_list -def output_for_curation(trait: Trait, curation_writer: csv.writer): +def output_for_curation(trait: Trait, curation_writer: csv.writer, ontology: str = 'EFO'): """ Write any non-finished Zooma or OxO mappings of a trait to a file for manual curation. Also outputs traits without any ontology mappings. :param trait: A Trait with no finished ontology mappings in finished_mapping_set + :param ontology: ID of target ontology (default EFO) :param curation_writer: A csv.writer to write non-finished ontology mappings for manual curation """ @@ -54,28 +55,30 @@ def output_for_curation(trait: Trait, curation_writer: csv.writer): for zooma_mapping in zooma_mapping_list: cell = [zooma_mapping.uri, zooma_mapping.ontology_label, str(zooma_mapping.confidence), - zooma_mapping.source, 'EFO_CURRENT' if zooma_mapping.in_efo else 'NOT_CONTAINED'] + zooma_mapping.source, f'{ontology.upper()}_CURRENT' if zooma_mapping.in_ontology else 'NOT_CONTAINED'] output_row.append("|".join(cell)) oxo_mapping_list = get_mappings_for_curation(trait.oxo_result_list) for oxo_mapping in oxo_mapping_list: cell = [str(oxo_mapping.uri), oxo_mapping.ontology_label, str(oxo_mapping.distance), - oxo_mapping.query_id, 'EFO_CURRENT' if oxo_mapping.in_efo else 'NOT_CONTAINED'] + oxo_mapping.query_id, f'{ontology.upper()}_CURRENT' if oxo_mapping.in_ontology else 'NOT_CONTAINED'] output_row.append("|".join(cell)) curation_writer.writerow(output_row) -def output_trait(trait: Trait, mapping_writer: csv.writer, curation_writer: csv.writer, finished_source_counts: Counter): +def output_trait(trait: Trait, mapping_writer: csv.writer, curation_writer: csv.writer, finished_source_counts: Counter, + ontology: str = 'EFO'): """ Output finished ontology mappings of a trait, or non-finished mappings (if any) for curation. :param trait: A trait which has been used to query Zooma and possibly OxO. :param mapping_writer: A csv.writer to write the finished mappings :param curation_writer: A csv.writer to write non-finished ontology mappings for manual curation + :param ontology: ID of target ontology (default EFO) """ if trait.is_finished: output_trait_mapping(trait, mapping_writer, finished_source_counts) else: - output_for_curation(trait, curation_writer) + output_for_curation(trait, curation_writer, ontology) diff --git a/cmat/trait_mapping/oxo.py b/cmat/trait_mapping/oxo.py index 93c5652c..d2fa67d2 100644 --- a/cmat/trait_mapping/oxo.py +++ b/cmat/trait_mapping/oxo.py @@ -3,8 +3,8 @@ import re import requests -from cmat.trait_mapping.ols import get_ontology_label_from_ols, is_in_efo -from cmat.trait_mapping.ols import is_current_and_in_efo +from cmat.trait_mapping.ols import get_ontology_label_from_ols, is_in_ontology +from cmat.trait_mapping.ols import is_current_and_in_ontology from cmat.trait_mapping.utils import json_request @@ -45,7 +45,7 @@ def __init__(self, label, curie, distance, query_id): self.uri = OntologyUri(self.id_, self.db) self.distance = distance self.query_id = query_id - self.in_efo = False + self.in_ontology = False # For non-EFO mappings, `is_current` property does not make sense and it not used self.is_current = False self.ontology_label = "" @@ -54,12 +54,12 @@ def __eq__(self, other): if not isinstance(other, type(self)): return False return (self.label == other.label, self.db == other.db, self.id_ == other.id_, - self.distance == other.distance, self.in_efo == other.in_efo, + self.distance == other.distance, self.in_ontology == other.in_ontology, self.is_current == other.is_current, self.ontology_label == other.ontology_label) def __lt__(self, other): - return ((other.distance, self.in_efo, self.is_current) < - (self.distance, other.in_efo, other.is_current)) + return ((other.distance, self.in_ontology, self.is_current) < + (self.distance, other.in_ontology, other.is_current)) def __str__(self): return "{}, {}, {}, {}".format(self.label, self.curie, self.distance, self.query_id) @@ -155,11 +155,12 @@ def build_oxo_payload(id_list: list, target_list: list, distance: int) -> dict: return payload -def get_oxo_results_from_response(oxo_response: dict) -> list: +def get_oxo_results_from_response(oxo_response: dict, target_ontology: str = 'EFO') -> list: """ For a json(/dict) response from an OxO request, parse the data into a list of OxOResults :param oxo_response: Response from OxO request + :param target_ontology: ID of target ontology (default EFO) :return: List of OxOResults based upon the response from OxO """ oxo_result_list = [] @@ -183,13 +184,13 @@ def get_oxo_results_from_response(oxo_response: dict) -> list: if ontology_label is not None: oxo_mapping.ontology_label = ontology_label - uri_is_current_and_in_efo = is_current_and_in_efo(uri) - if not uri_is_current_and_in_efo: - uri_is_in_efo = is_in_efo(uri) - oxo_mapping.in_efo = uri_is_in_efo + uri_is_current_and_in_ontology = is_current_and_in_ontology(uri, target_ontology) + if not uri_is_current_and_in_ontology: + uri_is_in_ontology = is_in_ontology(uri, target_ontology) + oxo_mapping.in_ontology = uri_is_in_ontology else: - oxo_mapping.in_efo = uri_is_current_and_in_efo - oxo_mapping.is_current = uri_is_current_and_in_efo + oxo_mapping.in_ontology = uri_is_current_and_in_ontology + oxo_mapping.is_current = uri_is_current_and_in_ontology oxo_result.mapping_list.append(oxo_mapping) diff --git a/cmat/trait_mapping/trait.py b/cmat/trait_mapping/trait.py index 7d524e39..f28fd664 100644 --- a/cmat/trait_mapping/trait.py +++ b/cmat/trait_mapping/trait.py @@ -63,7 +63,7 @@ def process_zooma_results(self): continue for mapping in mapping.mapping_list: - if mapping.in_efo and mapping.is_current: + if mapping.in_ontology and mapping.is_current: ontology_entry = OntologyEntry(mapping.uri, mapping.ontology_label) self.finished_mapping_set.add(ontology_entry) @@ -74,7 +74,7 @@ def process_oxo_mappings(self): """ for result in self.oxo_result_list: for mapping in result.mapping_list: - if mapping.in_efo and mapping.is_current and mapping.distance == 1: + if mapping.in_ontology and mapping.is_current and mapping.distance == 1: uri = str(mapping.uri) ontology_label = mapping.ontology_label ontology_entry = OntologyEntry(uri, ontology_label) diff --git a/cmat/trait_mapping/zooma.py b/cmat/trait_mapping/zooma.py index d25148f2..60866ce8 100644 --- a/cmat/trait_mapping/zooma.py +++ b/cmat/trait_mapping/zooma.py @@ -2,7 +2,7 @@ from functools import total_ordering import logging -from cmat.trait_mapping.ols import get_ontology_label_from_ols, is_current_and_in_efo, is_in_efo +from cmat.trait_mapping.ols import get_ontology_label_from_ols, is_current_and_in_ontology, is_in_ontology from cmat.trait_mapping.utils import json_request @@ -37,7 +37,7 @@ def __init__(self, uri, confidence, source): self.confidence = ZoomaConfidence[confidence.upper()] self.source = source self.ontology_label = "" - self.in_efo = False + self.in_ontology = False # For non-EFO mappings, `is_current` property does not make sense and it not used self.is_current = False @@ -45,14 +45,14 @@ def __eq__(self, other): if not isinstance(other, type(self)): return False if (self.uri != other.uri or self.confidence != other.confidence - or self.ontology_label != other.ontology_label or self.in_efo != other.in_efo + or self.ontology_label != other.ontology_label or self.in_ontology != other.in_ontology or self.is_current != other.is_current): return False return True def __lt__(self, other): - return ((self.confidence, self.in_efo, self.is_current) < - (other.confidence, other.in_efo, other.is_current)) + return ((self.confidence, self.in_ontology, self.is_current) < + (other.confidence, other.in_ontology, other.is_current)) class ZoomaResult: @@ -81,7 +81,7 @@ def __eq__(self, other): self.mapping_list == other.mapping_list) -def get_zooma_results(trait_name: str, filters: dict, zooma_host: str) -> list: +def get_zooma_results(trait_name: str, filters: dict, zooma_host: str, target_ontology: str = 'EFO') -> list: """ Given a trait name, Zooma filters in a dict and a hostname to use, query Zooma and return a list of Zooma mappings for this trait. @@ -94,6 +94,7 @@ def get_zooma_results(trait_name: str, filters: dict, zooma_host: str) -> list: :param trait_name: A string containing a trait name from a ClinVar record. :param filters: A dictionary containing filters used when querying OxO :param zooma_host: Hostname of a Zooma instance to query. + :param target_ontology: ID of target ontology (default EFO) :return: List of ZoomaResults """ @@ -114,13 +115,13 @@ def get_zooma_results(trait_name: str, filters: dict, zooma_host: str) -> list: # If no label is returned (because OLS failed to provide it), keep the existing one from ZOOMA zooma_mapping.ontology_label = zooma_result.zooma_label - uri_is_current_and_in_efo = is_current_and_in_efo(zooma_mapping.uri) - if not uri_is_current_and_in_efo: - uri_is_in_efo = is_in_efo(zooma_mapping.uri) - zooma_mapping.in_efo = uri_is_in_efo + uri_is_current_and_in_ontology = is_current_and_in_ontology(zooma_mapping.uri, target_ontology) + if not uri_is_current_and_in_ontology: + uri_is_in_ontology = is_in_ontology(zooma_mapping.uri, target_ontology) + zooma_mapping.in_ontology = uri_is_in_ontology else: - zooma_mapping.in_efo = uri_is_current_and_in_efo - zooma_mapping.is_current = uri_is_current_and_in_efo + zooma_mapping.in_ontology = uri_is_current_and_in_ontology + zooma_mapping.is_current = uri_is_current_and_in_ontology return zooma_result_list diff --git a/mappings/latest_mappings.tsv b/mappings/latest_mappings.tsv index 5f87ce6b..e8658460 100644 --- a/mappings/latest_mappings.tsv +++ b/mappings/latest_mappings.tsv @@ -1,4 +1,5 @@ #generated-date=2023-07-24 +#ontology=EFO 11p partial monosomy syndrome http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 11q partial monosomy syndrome http://purl.obolibrary.org/obo/MONDO_0007838 Jacobsen syndrome 1-2 finger syndactyly http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly diff --git a/pipelines/annotation_pipeline.nf b/pipelines/annotation_pipeline.nf index 1fc9fb48..c7b5411b 100644 --- a/pipelines/annotation_pipeline.nf +++ b/pipelines/annotation_pipeline.nf @@ -301,7 +301,7 @@ process generateAnnotatedXml { """ \${PYTHON_BIN} ${codeRoot}/bin/generate_annotated_xml.py \ --clinvar-xml ${clinvarXml} \ - --efo-mapping ${params.mappings} \ + --trait-mapping ${params.mappings} \ --gene-mapping ${consequenceMappings} \ ${evalGeneFlag} ${evalXrefFlag} ${evalLatestFlag} \ --output-xml annotated_clinvar.xml.gz diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 2082411c..ddc766b3 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -197,6 +197,7 @@ process checkDuplicates { /* * Add generated date to header of final mappings file. */ + // TODO add target ontology to header process addDateToHeader { publishDir "${curationRoot}", overwrite: true, diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index 1b24b5ec..a06749a7 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -45,6 +45,7 @@ workflow { clinvarXml = downloadClinvar() } + // TODO get target ontology from mappings file parseTraits(clinvarXml) splitTraits(parseTraits.out.parsedTraits) processTraits(splitTraits.out.traitChunk.flatten()) diff --git a/tests/output_generation/test_clinvar_to_evidence_strings.py b/tests/output_generation/test_clinvar_to_evidence_strings.py index 62946d48..874455e9 100644 --- a/tests/output_generation/test_clinvar_to_evidence_strings.py +++ b/tests/output_generation/test_clinvar_to_evidence_strings.py @@ -12,7 +12,7 @@ import config -EFO_MAPPINGS = clinvar_to_evidence_strings.load_efo_mapping(config.efo_mapping_file) +EFO_MAPPINGS = clinvar_to_evidence_strings.load_ontology_mapping(config.efo_mapping_file) GENE_MAPPINGS = CT.process_consequence_type_file(config.snp_2_gene_file) diff --git a/tests/trait_mapping/resources/test_ols_data.py b/tests/trait_mapping/resources/test_ols_data.py index 7a55f057..e3533c10 100644 --- a/tests/trait_mapping/resources/test_ols_data.py +++ b/tests/trait_mapping/resources/test_ols_data.py @@ -1,13 +1,13 @@ -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER class TestGetTraitNamesData: - orphanet_199318_ols_terms_json = {'page': {'totalElements': 2, 'totalPages': 1, 'size': 20, 'number': 0}, '_embedded': {'terms': [{'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/graph'}, 'part_of': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FBFO_0000050'}, 'has_inheritance': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_C016'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/jstree'}, 'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/parents'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalParents'}, 'has_AgeOfOnset': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_C017'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:199318', 'obo_xref': [{'id': 'C2677613', 'url': None, 'database': 'UMLS', 'description': 'E (exact mapping (the terms and the concepts are equivalent))'}, {'id': 'Q93.5', 'url': None, 'database': 'ICD-10', 'description': 'NTBT (narrower term maps to a broader term)'}, {'id': 'Q93.5', 'url': None, 'database': 'ICD-10', 'description': 'Attributed'}, {'id': '612001', 'url': 'http://omim.org/entry/612001', 'database': 'OMIM', 'description': 'E (exact mapping (the terms and the concepts are equivalent))'}], 'iri': 'http://www.orpha.net/ORDO/Orphanet_199318', 'obo_synonym': None, 'is_defining_ontology': True, 'ontology_name': 'ordo', 'is_obsolete': False, 'synonyms': ['Monosomy 15q13.3', 'Del(15)(q13.3)'], 'ontology_iri': 'http://www.orpha.net/ontology/orphanet.owl', 'label': '15q13.3 microdeletion syndrome', 'description': ['15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'ORDO', 'annotation': {'hasDbXref': ['ICD-10:Q93.5', 'OMIM:612001', 'UMLS:C2677613'], 'definition_citation': ['orphanet']}, 'short_form': 'Orphanet_199318', 'term_replaced_by': None}, {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/graph'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/jstree'}, 'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/parents'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:199318', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_199318', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['Monosomy 15q13.3', 'Del(15)(q13.3)'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': '15q13.3 microdeletion syndrome', 'description': ['15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'OMIM_definition_citation': ['OMIM:612001'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:Q93.5']}, 'short_form': 'Orphanet_199318', 'term_replaced_by': None}]}, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/terms'}}} + orphanet_199318_ols_terms_json = {'page': {'totalElements': 2, 'totalPages': 1, 'size': 20, 'number': 0}, '_embedded': {'terms': [{'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/graph'}, 'part_of': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FBFO_0000050'}, 'has_inheritance': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_C016'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/jstree'}, 'parents': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/parents'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalParents'}, 'has_AgeOfOnset': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_C017'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:199318', 'obo_xref': [{'id': 'C2677613', 'url': None, 'database': 'UMLS', 'description': 'E (exact mapping (the terms and the concepts are equivalent))'}, {'id': 'Q93.5', 'url': None, 'database': 'ICD-10', 'description': 'NTBT (narrower term maps to a broader term)'}, {'id': 'Q93.5', 'url': None, 'database': 'ICD-10', 'description': 'Attributed'}, {'id': '612001', 'url': 'http://omim.org/entry/612001', 'database': 'OMIM', 'description': 'E (exact mapping (the terms and the concepts are equivalent))'}], 'iri': 'http://www.orpha.net/ORDO/Orphanet_199318', 'obo_synonym': None, 'is_defining_ontology': True, 'ontology_name': 'ordo', 'is_obsolete': False, 'synonyms': ['Monosomy 15q13.3', 'Del(15)(q13.3)'], 'ontology_iri': 'http://www.orpha.net/ontology/orphanet.owl', 'label': '15q13.3 microdeletion syndrome', 'description': ['15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'ORDO', 'annotation': {'hasDbXref': ['ICD-10:Q93.5', 'OMIM:612001', 'UMLS:C2677613'], 'definition_citation': ['orphanet']}, 'short_form': 'Orphanet_199318', 'term_replaced_by': None}, {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/graph'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/jstree'}, 'parents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/parents'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_199318/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:199318', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_199318', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['Monosomy 15q13.3', 'Del(15)(q13.3)'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': '15q13.3 microdeletion syndrome', 'description': ['15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'OMIM_definition_citation': ['OMIM:612001'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:Q93.5']}, 'short_form': 'Orphanet_199318', 'term_replaced_by': None}]}, '_links': {'self': {'href': f'{OLS_SERVER}/api/terms'}}} class TestIsCurrentAndInEfoData: - orphanet_425_ols_efo_json = {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/graph'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/jstree'}, 'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/parents'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:425', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_425', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['ApoA-I deficiency', 'Familial hypoalphalipoproteinemia', 'Familial apoA-I deficiency'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': 'Apolipoprotein A-I deficiency', 'description': ['Apolipoprotein AI (Apo A-I) deficiency is 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).'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'MedDRA_definition_citation': ['MedDRA:10065133'], 'OMIM_definition_citation': ['OMIM:604091'], 'MSH_definition_citation': ['MSH:D052456'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:E78.6'], 'UMLS_definition_citation': ['UMLS:C1704429', 'UMLS:C0342898']}, 'short_form': 'Orphanet_425', 'term_replaced_by': None} + orphanet_425_ols_efo_json = {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/graph'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/jstree'}, 'parents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/parents'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:425', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_425', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['ApoA-I deficiency', 'Familial hypoalphalipoproteinemia', 'Familial apoA-I deficiency'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': 'Apolipoprotein A-I deficiency', 'description': ['Apolipoprotein AI (Apo A-I) deficiency is 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).'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'MedDRA_definition_citation': ['MedDRA:10065133'], 'OMIM_definition_citation': ['OMIM:604091'], 'MSH_definition_citation': ['MSH:D052456'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:E78.6'], 'UMLS_definition_citation': ['UMLS:C1704429', 'UMLS:C0342898']}, 'short_form': 'Orphanet_425', 'term_replaced_by': None} class TestIsInEfoData: - orphanet_425_ols_efo_json = {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/graph'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/jstree'}, 'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/parents'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:425', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_425', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['ApoA-I deficiency', 'Familial hypoalphalipoproteinemia', 'Familial apoA-I deficiency'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': 'Apolipoprotein A-I deficiency', 'description': ['Apolipoprotein AI (Apo A-I) deficiency is 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).'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'MedDRA_definition_citation': ['MedDRA:10065133'], 'OMIM_definition_citation': ['OMIM:604091'], 'MSH_definition_citation': ['MSH:D052456'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:E78.6'], 'UMLS_definition_citation': ['UMLS:C1704429', 'UMLS:C0342898']}, 'short_form': 'Orphanet_425', 'term_replaced_by': None} + orphanet_425_ols_efo_json = {'is_root': False, 'in_subset': None, '_links': {'self': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/graph'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/jstree'}, 'parents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/parents'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalParents'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/ancestors'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425/hierarchicalAncestors'}}, 'obo_id': 'Orphanet:425', 'obo_xref': None, 'iri': 'http://www.orpha.net/ORDO/Orphanet_425', 'obo_synonym': None, 'is_defining_ontology': False, 'ontology_name': 'efo', 'is_obsolete': False, 'synonyms': ['ApoA-I deficiency', 'Familial hypoalphalipoproteinemia', 'Familial apoA-I deficiency'], 'ontology_iri': 'http://www.ebi.ac.uk/efo/efo.owl', 'label': 'Apolipoprotein A-I deficiency', 'description': ['Apolipoprotein AI (Apo A-I) deficiency is 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).'], 'obo_definition_citation': None, 'has_children': False, 'ontology_prefix': 'EFO', 'annotation': {'MedDRA_definition_citation': ['MedDRA:10065133'], 'OMIM_definition_citation': ['OMIM:604091'], 'MSH_definition_citation': ['MSH:D052456'], 'definition_citation': ['orphanet'], 'ICD10_definition_citation': ['ICD10:E78.6'], 'UMLS_definition_citation': ['UMLS:C1704429', 'UMLS:C0342898']}, 'short_form': 'Orphanet_425', 'term_replaced_by': None} diff --git a/tests/trait_mapping/resources/test_oxo_data.py b/tests/trait_mapping/resources/test_oxo_data.py index b978721b..16daf2db 100644 --- a/tests/trait_mapping/resources/test_oxo_data.py +++ b/tests/trait_mapping/resources/test_oxo_data.py @@ -1,11 +1,11 @@ -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER class TestGetOxoResultsFromResponseData: - orphanet_660_ols_terms_json = {'_embedded': {'terms': [{'has_children': False, '_links': {'has_inheritance': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_C016'}, 'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660/parents'}, 'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660/hierarchicalParents'}, 'part_of': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FBFO_0000050'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ordo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660/hierarchicalAncestors'}, 'jstree': {'href': 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{'description': None, 'url': None, 'database': 'SNOMEDCT', 'id': '396347007'}, {'description': None, 'url': 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?view=expanded&field=uid&term=D006554', 'database': 'MeSH', 'id': 'D006554'}], 'description': ['Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'], 'annotation': {'id': ['HP:0001537'], 'has_obo_namespace': ['human_phenotype'], 'database_cross_reference': ['SNOMEDCT:396347007', 'UMLS:C0019322', 'MeSH:D006554']}, 'ontology_name': 'ontoneo', 'in_subset': ['hposlim_core'], 'ontology_iri': 'http://purl.obolibrary.org/obo/ontoneo/ontoneo.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': ['Umbilical hernias'], 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'OHMI', 'obo_synonym': None, 'is_defining_ontology': False, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': None, 'description': None, 'annotation': {}, 'ontology_name': 'ohmi', 'in_subset': None, 'ontology_iri': 'http://purl.obolibrary.org/obo/ohmi', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': None, 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'HP', 'obo_synonym': None, 'is_defining_ontology': True, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': [{'description': None, 'url': None, 'database': 'UMLS', 'id': 'C0019322'}, {'description': None, 'url': None, 'database': 'SNOMEDCT_US', 'id': '396347007'}], 'description': ['Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'], 'annotation': {'id': ['HP:0001537'], 'has_obo_namespace': ['human_phenotype'], 'database_cross_reference': ['SNOMEDCT_US:396347007', 'UMLS:C0019322']}, 'ontology_name': 'hp', 'in_subset': ['hposlim_core'], 'ontology_iri': 'http://purl.obolibrary.org/obo/hp.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': [{'oboXrefs': [{'description': None, 'url': None, 'database': 'HPO', 'id': 'probinson'}], 'definition': 'Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'}], 'synonyms': ['Umbilical hernias'], 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_EFO_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'DOID', 'obo_synonym': None, 'is_defining_ontology': False, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': None, 'description': None, 'annotation': {}, 'ontology_name': 'doid', 'in_subset': None, 'ontology_iri': 'http://purl.obolibrary.org/obo/doid.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': None, 'obo_id': 'HP:0001537'}]}, 'page': {'totalPages': 1, 'size': 20, 'number': 0, 'totalElements': 4}, '_links': {'self': {'href': f'{OLS_EFO_SERVER}/api/terms'}}} \ No newline at end of file + hp_0001537_ols_terms_json = {'_embedded': {'terms': [{'has_children': False, '_links': {'parents': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/ontoneo/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'ONTONEO', 'obo_synonym': None, 'is_defining_ontology': False, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': [{'description': None, 'url': None, 'database': 'UMLS', 'id': 'C0019322'}, {'description': None, 'url': None, 'database': 'SNOMEDCT', 'id': '396347007'}, {'description': None, 'url': 'http://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?view=expanded&field=uid&term=D006554', 'database': 'MeSH', 'id': 'D006554'}], 'description': ['Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'], 'annotation': {'id': ['HP:0001537'], 'has_obo_namespace': ['human_phenotype'], 'database_cross_reference': ['SNOMEDCT:396347007', 'UMLS:C0019322', 'MeSH:D006554']}, 'ontology_name': 'ontoneo', 'in_subset': ['hposlim_core'], 'ontology_iri': 'http://purl.obolibrary.org/obo/ontoneo/ontoneo.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': ['Umbilical hernias'], 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/ohmi/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'OHMI', 'obo_synonym': None, 'is_defining_ontology': False, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': None, 'description': None, 'annotation': {}, 'ontology_name': 'ohmi', 'in_subset': None, 'ontology_iri': 'http://purl.obolibrary.org/obo/ohmi', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': None, 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/hp/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'HP', 'obo_synonym': None, 'is_defining_ontology': True, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': [{'description': None, 'url': None, 'database': 'UMLS', 'id': 'C0019322'}, {'description': None, 'url': None, 'database': 'SNOMEDCT_US', 'id': '396347007'}], 'description': ['Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'], 'annotation': {'id': ['HP:0001537'], 'has_obo_namespace': ['human_phenotype'], 'database_cross_reference': ['SNOMEDCT_US:396347007', 'UMLS:C0019322']}, 'ontology_name': 'hp', 'in_subset': ['hposlim_core'], 'ontology_iri': 'http://purl.obolibrary.org/obo/hp.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': [{'oboXrefs': [{'description': None, 'url': None, 'database': 'HPO', 'id': 'probinson'}], 'definition': 'Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.'}], 'synonyms': ['Umbilical hernias'], 'obo_id': 'HP:0001537'}, {'has_children': False, '_links': {'parents': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/parents'}, 'self': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537'}, 'hierarchicalParents': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalParents'}, 'hierarchicalAncestors': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/hierarchicalAncestors'}, 'jstree': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/jstree'}, 'graph': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/graph'}, 'ancestors': {'href': f'{OLS_SERVER}/api/ontologies/doid/terms/http%253A%252F%252Fpurl.obolibrary.org%252Fobo%252FHP_0001537/ancestors'}}, 'iri': 'http://purl.obolibrary.org/obo/HP_0001537', 'ontology_prefix': 'DOID', 'obo_synonym': None, 'is_defining_ontology': False, 'label': 'Umbilical hernia', 'is_root': False, 'obo_xref': None, 'description': None, 'annotation': {}, 'ontology_name': 'doid', 'in_subset': None, 'ontology_iri': 'http://purl.obolibrary.org/obo/doid.owl', 'term_replaced_by': None, 'is_obsolete': False, 'short_form': 'HP_0001537', 'obo_definition_citation': None, 'synonyms': None, 'obo_id': 'HP:0001537'}]}, 'page': {'totalPages': 1, 'size': 20, 'number': 0, 'totalElements': 4}, '_links': {'self': {'href': f'{OLS_SERVER}/api/terms'}}} \ No newline at end of file diff --git a/tests/trait_mapping/test_main.py b/tests/trait_mapping/test_main.py index b95bc273..29537b3c 100644 --- a/tests/trait_mapping/test_main.py +++ b/tests/trait_mapping/test_main.py @@ -43,7 +43,8 @@ def run_pipeline(resource_name): filters=filters, zooma_host='https://www.ebi.ac.uk', oxo_target_list=['Orphanet', 'efo', 'hp', 'mondo'], - oxo_distance=3 + oxo_distance=3, + ontology='EFO' ) output_traits = [row for row in csv.reader(open(traits_file.name), delimiter=',')] output_mappings = [line.rstrip().split('\t') for line in open(mappings_file.name).read().splitlines()] diff --git a/tests/trait_mapping/test_ols.py b/tests/trait_mapping/test_ols.py index 3675f2e7..b6cd2189 100644 --- a/tests/trait_mapping/test_ols.py +++ b/tests/trait_mapping/test_ols.py @@ -14,17 +14,17 @@ def test_get_ontology_label_from_ols(): def test_is_current_and_in_efo(): with requests_mock.mock() as m: - url = f"{ols.OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425" + url = f"{ols.OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425" m.get(url, json=test_ols_data.TestIsCurrentAndInEfoData.orphanet_425_ols_efo_json) - assert ols.is_current_and_in_efo("http://www.orpha.net/ORDO/Orphanet_425") == True + assert ols.is_current_and_in_ontology("http://www.orpha.net/ORDO/Orphanet_425") == True def test_is_in_efo(): with requests_mock.mock() as m: - url = f"{ols.OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425" + url = f"{ols.OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_425" m.get(url, json=test_ols_data.TestIsInEfoData.orphanet_425_ols_efo_json) - assert ols.is_in_efo("http://www.orpha.net/ORDO/Orphanet_425") == True + assert ols.is_in_ontology("http://www.orpha.net/ORDO/Orphanet_425") == True diff --git a/tests/trait_mapping/test_output.py b/tests/trait_mapping/test_output.py index 7aa303e1..bf4c8188 100644 --- a/tests/trait_mapping/test_output.py +++ b/tests/trait_mapping/test_output.py @@ -44,7 +44,7 @@ def test_get_non_efo_mapping(): 'abnormal bleeding', 'HIGH', 'eva-clinvar') mapping = test_zooma_result.mapping_list[0] mapping.confidence = zooma.ZoomaConfidence.HIGH - mapping.in_efo = False + mapping.in_ontology = False mapping.is_current = False mapping.ontology_label = "" mapping.source = 'eva-clinvar' @@ -59,7 +59,7 @@ def test_get_obsolete_efo_mapping(): 'HIGH', 'eva-clinvar') mapping = test_zooma_result.mapping_list[0] mapping.confidence = zooma.ZoomaConfidence.HIGH - mapping.in_efo = True + mapping.in_ontology = True mapping.is_current = False mapping.ontology_label = "Adenine phosphoribosyltransferase deficiency" mapping.source = 'eva-clinvar' @@ -74,7 +74,7 @@ def test_get_current_efo_mapping(): 'MEDIUM', 'eva-clinvar') mapping = test_zooma_result.mapping_list[0] mapping.confidence = zooma.ZoomaConfidence.HIGH - mapping.in_efo = True + mapping.in_ontology = True mapping.is_current = True mapping.ontology_label = "Abnormal neutrophil chemotactic response" mapping.source = 'eva-clinvar' @@ -93,7 +93,7 @@ def test_output_for_curation(): "HP:0006740") test_oxo_mapping = OxOMapping("bladder transitional cell carcinoma", "EFO:0006544", 2, "HP:0006740") - test_oxo_mapping.in_efo = test_oxo_mapping.is_current = True + test_oxo_mapping.in_ontology = test_oxo_mapping.is_current = True test_oxo_mapping.ontology_label = "bladder transitional cell carcinoma" test_oxo_result.mapping_list = [test_oxo_mapping] diff --git a/tests/trait_mapping/test_oxo.py b/tests/trait_mapping/test_oxo.py index 9cf849bf..2f3a31bd 100644 --- a/tests/trait_mapping/test_oxo.py +++ b/tests/trait_mapping/test_oxo.py @@ -1,7 +1,7 @@ import requests_mock import cmat.trait_mapping.oxo as oxo -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER import resources.test_oxo_data as test_oxo_data @@ -44,24 +44,24 @@ def test_build_payload(self): class TestGetOxoResultsFromResponse: def test_get_oxo_results_from_response(self): with requests_mock.mock() as m: - m.get(f"{OLS_EFO_SERVER}/api/terms?iri=http://www.orpha.net/ORDO/Orphanet_660", + m.get(f"{OLS_SERVER}/api/terms?iri=http://www.orpha.net/ORDO/Orphanet_660", json=test_oxo_data.TestGetOxoResultsFromResponseData.orphanet_660_ols_terms_json) m.get( - f"{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660", + f"{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660", json={'message': 'Resource not found', 'timestamp': 1502441846181, 'exception': 'org.springframework.data.rest.webmvc.ResourceNotFoundException', 'status': 404, 'error': 'Not Found', 'path': '/ols4/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_660'}, status_code=404) - m.get(f"{OLS_EFO_SERVER}/api/terms?iri=http://www.orpha.net/ORDO/Orphanet_3164", + m.get(f"{OLS_SERVER}/api/terms?iri=http://www.orpha.net/ORDO/Orphanet_3164", json=test_oxo_data.TestGetOxoResultsFromResponseData.orphanet_3164_ols_terms_json) - m.get(f"{OLS_EFO_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_3164", + m.get(f"{OLS_SERVER}/api/ontologies/efo/terms/http%253A%252F%252Fwww.orpha.net%252FORDO%252FOrphanet_3164", json=test_oxo_data.TestGetOxoResultsFromResponseData.orphanet_3164_ols_efo_json) - m.get(f"{OLS_EFO_SERVER}/api/terms?iri=http://purl.obolibrary.org/obo/HP_0001537", + m.get(f"{OLS_SERVER}/api/terms?iri=http://purl.obolibrary.org/obo/HP_0001537", json=test_oxo_data.TestGetOxoResultsFromResponseData.hp_0001537_ols_terms_json) oxo_response = {'_embedded': {'searchResults': [{'curie': 'HP:0001537', '_links': {'self': {'href': 'https://www.ebi.ac.uk/spot/oxo/api/terms/HP:0001537'}, 'mappings': {'href': 'https://www.ebi.ac.uk/spot/oxo/api/mappings?fromId=HP:0001537'}}, 'label': 'Umbilical hernia', 'querySource': None, 'queryId': 'HP:0001537', 'mappingResponseList': [{'curie': 'Orphanet:660', 'targetPrefix': 'Orphanet', 'distance': 3, 'sourcePrefixes': ['ONTONEO', 'Orphanet', 'DOID', 'UMLS'], 'label': 'Omphalocele'}, {'curie': 'Orphanet:3164', 'targetPrefix': 'Orphanet', 'distance': 3, 'sourcePrefixes': ['ONTONEO', 'EFO', 'Orphanet', 'DOID'], 'label': 'Omphalocele syndrome, Shprintzen-Goldberg type'}]}]}, 'page': {'totalPages': 1, 'size': 1000, 'number': 0, 'totalElements': 1}, '_links': {'self': {'href': 'https://www.ebi.ac.uk/spot/oxo/api/search'}}} diff --git a/tests/trait_mapping/test_trait.py b/tests/trait_mapping/test_trait.py index 1717ac0c..dcc0ae01 100644 --- a/tests/trait_mapping/test_trait.py +++ b/tests/trait_mapping/test_trait.py @@ -22,7 +22,7 @@ def test_process_zooma_result(): 'HIGH', 'eva-clinvar') entry = test_zooma_result.mapping_list[0] entry.confidence = zooma.ZoomaConfidence.HIGH - entry.in_efo = True + entry.in_ontology = True entry.is_current = True entry.ontology_label = "Adenine phosphoribosyltransferase deficiency" entry.source = 'eva-clinvar' @@ -41,11 +41,11 @@ def test_process_oxo_mappings(): test_oxo_mapping_1 = oxo.OxOMapping('Isolated polycystic liver disease', 'Orphanet:2924', 2, 'HP:0006706') - test_oxo_mapping_1.in_efo = True + test_oxo_mapping_1.in_ontology = True test_oxo_mapping_1.is_current = True test_oxo_mapping_2 = oxo.OxOMapping('cystic liver disease', 'EFO:1001505', 1, 'HP:0006706') - test_oxo_mapping_2.in_efo = True + test_oxo_mapping_2.in_ontology = True test_oxo_mapping_2.is_current = True test_oxo_result.mapping_list = [test_oxo_mapping_1, test_oxo_mapping_2] diff --git a/tests/trait_mapping/test_zooma.py b/tests/trait_mapping/test_zooma.py index befe4475..ad2d400b 100644 --- a/tests/trait_mapping/test_zooma.py +++ b/tests/trait_mapping/test_zooma.py @@ -1,5 +1,5 @@ import cmat.trait_mapping.zooma as zooma -from cmat.trait_mapping.ols import OLS_EFO_SERVER +from cmat.trait_mapping.ols import OLS_SERVER def test_build_zooma_query(): @@ -21,7 +21,7 @@ def test_get_zooma_results_for_trait(): 'accuracy': None, 'generator': 'ZOOMA', 'annotator': 'ZOOMA', 'evidence': 'ZOOMA_INFERRED_FROM_CURATED', 'annotationDate': 1502287637052}, '_links': {'olslinks': [ - {'href': f'{OLS_EFO_SERVER}/api/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FHP_0001892', + {'href': f'{OLS_SERVER}/api/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FHP_0001892', 'semanticTag': 'http://purl.obolibrary.org/obo/HP_0001892'}]}, 'annotatedBiologicalEntities': [], 'annotatedProperty': { 'uri': 'http://rdf.ebi.ac.uk/resource/zooma/8EAA9C1095AD18A90D557D7086084B64', @@ -45,7 +45,7 @@ def test_get_zooma_results_for_trait(): 'abnormal bleeding', 'HIGH', 'eva-clinvar') entry = expected_zooma_result.mapping_list[0] entry.confidence = zooma.ZoomaConfidence.HIGH - entry.in_efo = False + entry.in_ontology = False entry.is_current = False entry.ontology_label = "" entry.source = 'eva-clinvar' From 7a6f1116117a3ccad047abad1c39859931df5bac Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 12 Dec 2023 15:09:10 +0000 Subject: [PATCH 02/10] ignore case --- cmat/output_generation/evaluation/ols_utils.py | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/cmat/output_generation/evaluation/ols_utils.py b/cmat/output_generation/evaluation/ols_utils.py index 961f5a8c..7b4d3cca 100644 --- a/cmat/output_generation/evaluation/ols_utils.py +++ b/cmat/output_generation/evaluation/ols_utils.py @@ -43,7 +43,7 @@ def fetch_eval_data(*, db_iden=None, uri=None, include_neighbors=False, target_o if json_response and '_embedded' in json_response: for term in json_response['_embedded']['terms']: # Get only target ontology terms (even if imported) - if term['ontology_name'] == target_ontology: + if term['ontology_name'].lower() == target_ontology.lower(): synonyms, is_obsolete = extract_synonyms_and_obsolete(term) # If requested, fetch the parents and children of this term if include_neighbors: From d67c4e65e5b851f9e26e992da411c7fe6b5d41d1 Mon Sep 17 00:00:00 2001 From: April Shen Date: Tue, 12 Dec 2023 16:12:02 +0000 Subject: [PATCH 03/10] WIP - store ontology in mappings file header --- bin/evaluation/check_latest_mappings.py | 6 ++--- .../create_table_for_manual_curation.py | 6 ++--- cmat/output_generation/annotated_clinvar.py | 25 +++++++++++-------- .../clinvar_to_evidence_strings.py | 14 ++++++++--- pipelines/export_curation_spreadsheet.nf | 1 + pipelines/generate_curation_spreadsheet.nf | 5 +++- .../test_clinvar_to_evidence_strings.py | 2 +- 7 files changed, 37 insertions(+), 22 deletions(-) diff --git a/bin/evaluation/check_latest_mappings.py b/bin/evaluation/check_latest_mappings.py index 3ed5a7dd..c548c73c 100644 --- a/bin/evaluation/check_latest_mappings.py +++ b/bin/evaluation/check_latest_mappings.py @@ -9,11 +9,11 @@ def main(mapping_file, output_file): """Load mapping file, map identifiers to synonyms in OLS, and dump results to TSV.""" - mappings = load_ontology_mapping(mapping_file) + mappings, target_ontology = load_ontology_mapping(mapping_file) all_uris = [uri for v in mappings.values() for uri, _ in v] process_pool = multiprocessing.Pool(processes=24) annotated_traits = [ - process_pool.apply(fetch_eval_data, kwds={'uri': uri, 'include_neighbors': False}) + process_pool.apply(fetch_eval_data, kwds={'uri': uri, 'include_neighbors': False, 'target_ontology': target_ontology}) for uri in all_uris ] with open(output_file, 'w+') as f: @@ -21,7 +21,7 @@ def main(mapping_file, output_file): if __name__ == '__main__': - parser = argparse.ArgumentParser(description='Script to check if mappings are obsolete in EFO and find synonyms') + parser = argparse.ArgumentParser(description='Script to check if mappings are obsolete and find synonyms') parser.add_argument('--latest-mappings', required=True, help='Latest mappings file') parser.add_argument('--output-file', required=True, help='File to output dataframe') args = parser.parse_args() diff --git a/bin/trait_mapping/create_table_for_manual_curation.py b/bin/trait_mapping/create_table_for_manual_curation.py index 5d9e56a8..a7073c97 100755 --- a/bin/trait_mapping/create_table_for_manual_curation.py +++ b/bin/trait_mapping/create_table_for_manual_curation.py @@ -68,12 +68,10 @@ def get_trait_status(uri, ontology): parser.add_argument( '-o', '--output', help='Output TSV to be loaded in Google Sheets for manual curation') - parser.add_argument('--target-ontology', help='ID of target ontology (default EFO, for allowable values see' - 'https://www.ebi.ac.uk/ols/ontologies)', default='EFO') args = parser.parse_args() # Load all previous mappings: ClinVar trait name to ontology URI - previous_mappings = load_ontology_mapping(args.previous_mappings) + previous_mappings, target_ontology = load_ontology_mapping(args.previous_mappings) # Load previous curator comments: ClinVar trait name to comment string try: @@ -95,7 +93,7 @@ def get_trait_status(uri, ontology): mappings = fields[3:53] exact_mapping = find_exact_mapping(trait_name, mappings) for previous_mapping, replacement_mapping in previous_and_replacement_mappings(trait_name, previous_mappings, - args.target_ontology): + target_ontology): rows.append([trait_name, trait_freq, notes, previous_mapping, exact_mapping, replacement_mapping] + mappings) diff --git a/cmat/output_generation/annotated_clinvar.py b/cmat/output_generation/annotated_clinvar.py index 29510b45..d4c2e850 100644 --- a/cmat/output_generation/annotated_clinvar.py +++ b/cmat/output_generation/annotated_clinvar.py @@ -17,16 +17,18 @@ class AnnotatingClinVarDataset(ClinVarDataset): """This class provides the ability to parse ClinVar records (RCVs) and annotate them with ontology mappings and consequence mappings on the fly.""" - def __init__(self, clinvar_xml, string_to_ontology_mappings, variant_to_gene_mappings, + def __init__(self, clinvar_xml, string_to_ontology_mappings, variant_to_gene_mappings, target_ontology, eval_gene_mappings=None, eval_xref_mappings=None, eval_latest_mappings=None): super().__init__(clinvar_xml) self.header_attr['ProcessedBy'] = PROCESSOR self.string_to_ontology_mappings = string_to_ontology_mappings self.variant_to_gene_mappings = variant_to_gene_mappings + self.target_ontology = target_ontology self.eval_gene_mappings = eval_gene_mappings self.eval_xref_mappings = eval_xref_mappings self.eval_latest_mappings = eval_latest_mappings + self.do_eval = (self.eval_gene_mappings and self.eval_xref_mappings and self.eval_latest_mappings) self.overall_counts = {} self.obsolete_counts = {} self.gene_metrics = None @@ -61,8 +63,9 @@ def __iter__(self): self.complex_variant_metrics = (SetComparisonMetrics(), SetComparisonMetrics()) self.trait_metrics = SetComparisonMetrics() - self.mismatches_file = open('mismatches.tsv', 'w+') - self.mismatches_file.write('RCV\tCV\tCMAT\n') + if self.do_eval: + self.mismatches_file = open('mismatches.tsv', 'w+') + self.mismatches_file.write('RCV\tCV\tCMAT\n') for rcv in iterate_rcv_from_xml(self.clinvar_xml): record = AnnotatedClinVarRecord(rcv) @@ -75,7 +78,8 @@ def __iter__(self): self.trait_metrics.finalise() for metrics in self.simple_variant_metrics + self.repeat_variant_metrics + self.complex_variant_metrics: metrics.finalise() - self.mismatches_file.close() + if self.do_eval: + self.mismatches_file.close() def annotate(self, record): self.overall_counts['total'] += 1 @@ -130,7 +134,7 @@ def annotate_and_count_traits(self, record): for ontology_id, ontology_label in self.string_to_ontology_mappings.get(trait.preferred_or_other_valid_name.lower(), []) ] - trait.add_ontology_mappings(target_ontology_ids) + trait.add_ontology_mappings(target_ontology_ids, self.target_ontology) # Evaluation if self.eval_xref_mappings and self.eval_latest_mappings: @@ -215,14 +219,13 @@ def __init__(self, rcv): class OntologyMappedClinVarTrait(ClinVarTrait): - def add_ontology_mappings(self, ontology_ids): + def add_ontology_mappings(self, ontology_ids, target_ontology): ontology_elts = [] for ontology_id in ontology_ids: ontology_id = self.format_ontology_id(ontology_id) # Include Status attribute so this isn't included among current xrefs ontology_elts.append(ET.Element('XRef', attrib={ - 'ID': ontology_id, 'DB': 'EFO', 'Status': 'annotated', 'providedBy': PROCESSOR})) - # TODO change attrib - parse from mappings file header e.g. #ontology=EFO + 'ID': ontology_id, 'DB': target_ontology, 'Status': 'annotated', 'providedBy': PROCESSOR})) self.trait_xml.extend(ontology_elts) @staticmethod @@ -313,7 +316,7 @@ def generate_annotated_clinvar_xml(clinvar_xml_file, trait_mapping_file, gene_ma eval_gene_file=None, eval_xref_file=None, eval_latest_file=None): """Generate an annotated XML file of ClinVar RCVs based on trait mapping and gene mapping files (as documented in clinvar_to_evidence_strings).""" - string_to_ontology_mappings = load_ontology_mapping(trait_mapping_file) + string_to_ontology_mappings, target_ontology = load_ontology_mapping(trait_mapping_file) variant_to_gene_mappings = CT.process_consequence_type_file(gene_mapping_file) # Need all files to do an evaluation if eval_gene_file and eval_xref_file and eval_latest_file: @@ -321,10 +324,12 @@ def generate_annotated_clinvar_xml(clinvar_xml_file, trait_mapping_file, gene_ma eval_xref_mappings = load_evaluation_xref_mappings(eval_xref_file) eval_latest_mappings = load_evaluation_latest(eval_latest_file) dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_ontology_mappings, variant_to_gene_mappings, + target_ontology, eval_gene_mappings=eval_gene_mappings, eval_xref_mappings=eval_xref_mappings, eval_latest_mappings=eval_latest_mappings) else: - dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_ontology_mappings, variant_to_gene_mappings) + dataset = AnnotatingClinVarDataset(clinvar_xml_file, string_to_ontology_mappings, variant_to_gene_mappings, + target_ontology) dataset.write(output_xml_file) dataset.report() diff --git a/cmat/output_generation/clinvar_to_evidence_strings.py b/cmat/output_generation/clinvar_to_evidence_strings.py index 7c34e3dd..dee86891 100644 --- a/cmat/output_generation/clinvar_to_evidence_strings.py +++ b/cmat/output_generation/clinvar_to_evidence_strings.py @@ -113,7 +113,7 @@ def validate_evidence_string(ev_string, ot_schema_contents): def launch_pipeline(clinvar_xml_file, efo_mapping_file, gene_mapping_file, ot_schema_file, dir_out): os.makedirs(dir_out, exist_ok=True) - string_to_efo_mappings = load_ontology_mapping(efo_mapping_file) + string_to_efo_mappings, _ = load_ontology_mapping(efo_mapping_file) variant_to_gene_mappings = CT.process_consequence_type_file(gene_mapping_file) report = clinvar_to_evidence_strings( @@ -338,20 +338,28 @@ def write_string_list_to_file(string_list, filename): def load_ontology_mapping(trait_mapping_file): trait_2_ontology = defaultdict(list) + target_ontology = 'EFO' n_ontology_mappings = 0 + in_header = True with open(trait_mapping_file, 'rt') as f: for line in f: line = line.rstrip() + if in_header: + # Extract ontology if present + m = re.match(r'^#ontology=(.*?)$', line) + if m and m.group(1): + target_ontology = m.group(1).upper() if line.startswith('#') or not line: continue + in_header = False line_list = line.split('\t') assert len(line_list) == 3, f'Incorrect string to ontology mapping format for line {line}' clinvar_name, ontology_id, ontology_label = line_list trait_2_ontology[clinvar_name.lower()].append((ontology_id, ontology_label)) n_ontology_mappings += 1 - logger.info('{} ontology mappings loaded'.format(n_ontology_mappings)) - return trait_2_ontology + logger.info('{} ontology mappings loaded for ontology {}'.format(n_ontology_mappings, target_ontology)) + return trait_2_ontology, target_ontology def get_terms_from_file(terms_file_path): diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index ddc766b3..03cfbdaa 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -81,6 +81,7 @@ process exportTable { script: """ + # TODO keep target ontology from header grep -v "^#" ${params.mappings} > previous_mappings.tsv """ } diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index a06749a7..07102d69 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -46,9 +46,10 @@ workflow { } // TODO get target ontology from mappings file + targetOntology = ... parseTraits(clinvarXml) splitTraits(parseTraits.out.parsedTraits) - processTraits(splitTraits.out.traitChunk.flatten()) + processTraits(splitTraits.out.traitChunk.flatten(), targetOntology) collectAutomatedMappings(processTraits.out.automatedTraits.collect()) collectCurationTraits(processTraits.out.traitsForCuration.collect()) createCurationTable(collectCurationTraits.out.curationTraits) @@ -111,6 +112,7 @@ process processTraits { input: each path(traitChunk) + val targetOntology output: path "automated_traits_*.tsv", emit: automatedTraits @@ -120,6 +122,7 @@ process processTraits { """ \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/process_traits.py \ -i ${traitChunk} \ + --target-ontology ${targetOntology} \ -o automated_traits_${traitChunk}.tsv \ -c curation_traits_${traitChunk}.tsv """ diff --git a/tests/output_generation/test_clinvar_to_evidence_strings.py b/tests/output_generation/test_clinvar_to_evidence_strings.py index 874455e9..d99bf7e2 100644 --- a/tests/output_generation/test_clinvar_to_evidence_strings.py +++ b/tests/output_generation/test_clinvar_to_evidence_strings.py @@ -12,7 +12,7 @@ import config -EFO_MAPPINGS = clinvar_to_evidence_strings.load_ontology_mapping(config.efo_mapping_file) +EFO_MAPPINGS, _ = clinvar_to_evidence_strings.load_ontology_mapping(config.efo_mapping_file) GENE_MAPPINGS = CT.process_consequence_type_file(config.snp_2_gene_file) From 48f1586b40448b360c4fc013c77b2e7cfdc846c1 Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 13 Dec 2023 14:31:56 +0000 Subject: [PATCH 04/10] parse target ontology from mappings header, add nextflow tests --- .github/workflows/tests.yml | 5 +- .../create_table_for_manual_curation.py | 2 +- pipelines/export_curation_spreadsheet.nf | 13 +- pipelines/generate_curation_spreadsheet.nf | 8 +- pipelines/utils.nf | 16 + .../expected/automated_trait_mappings.tsv | 638 +++ .../expected/consequences_repeat.tsv | 0 .../resources}/expected/consequences_snp.tsv | 0 .../expected/consequences_structural.tsv | 0 .../resources/expected/curator_comments.tsv | 1 + .../resources}/expected/evidence_strings.json | 0 .../expected/google_sheets_table.tsv | 18 + .../trait_names_to_ontology_mappings.tsv | 2297 ++++++++ .../finished_curation_spreadsheet.csv | 5062 +++++++++++++++++ .../resources}/input.xml.gz | Bin .../manual_curation/latest_mappings.tsv | 0 .../test_annotation_pipeline.sh} | 2 +- tests/pipelines/test_curation_pipelines.sh | 33 + 18 files changed, 8083 insertions(+), 12 deletions(-) create mode 100644 pipelines/utils.nf create mode 100644 tests/pipelines/resources/expected/automated_trait_mappings.tsv rename tests/{output_generation/resources/end2end => pipelines/resources}/expected/consequences_repeat.tsv (100%) rename tests/{output_generation/resources/end2end => pipelines/resources}/expected/consequences_snp.tsv (100%) rename tests/{output_generation/resources/end2end => pipelines/resources}/expected/consequences_structural.tsv (100%) create mode 100644 tests/pipelines/resources/expected/curator_comments.tsv rename tests/{output_generation/resources/end2end => pipelines/resources}/expected/evidence_strings.json (100%) create mode 100644 tests/pipelines/resources/expected/google_sheets_table.tsv create mode 100644 tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv create mode 100644 tests/pipelines/resources/finished_curation_spreadsheet.csv rename tests/{output_generation/resources/end2end => pipelines/resources}/input.xml.gz (100%) rename tests/{output_generation/resources/end2end => pipelines/resources}/manual_curation/latest_mappings.tsv (100%) rename tests/{output_generation/test_pipeline.sh => pipelines/test_annotation_pipeline.sh} (94%) create mode 100644 tests/pipelines/test_curation_pipelines.sh diff --git a/.github/workflows/tests.yml b/.github/workflows/tests.yml index 5c88150a..f8f062c5 100644 --- a/.github/workflows/tests.yml +++ b/.github/workflows/tests.yml @@ -43,7 +43,10 @@ jobs: run: python -m pytest --cov=cmat --cov-append tests -k integration - name: End-to-end test of evidence string generation pipeline - run: bash tests/output_generation/test_pipeline.sh + run: bash tests/pipelines/test_annotation_pipeline.sh + + - name: End-to-end test of curation pipelines + run: bash tests/pipelines/test_curation_pipelines.sh - name: Upload the coverage data to Coveralls env: diff --git a/bin/trait_mapping/create_table_for_manual_curation.py b/bin/trait_mapping/create_table_for_manual_curation.py index a7073c97..644c60ec 100755 --- a/bin/trait_mapping/create_table_for_manual_curation.py +++ b/bin/trait_mapping/create_table_for_manual_curation.py @@ -77,7 +77,7 @@ def get_trait_status(uri, ontology): try: previous_comments = pd.read_csv(args.previous_comments, sep='\t', header=None) previous_comments = dict(zip(previous_comments[0], previous_comments[1])) - except pd.errors.EmptyDataError: + except (FileNotFoundError, pd.errors.EmptyDataError): previous_comments = {} # Process all mappings which require manual curation diff --git a/pipelines/export_curation_spreadsheet.nf b/pipelines/export_curation_spreadsheet.nf index 03cfbdaa..10529942 100644 --- a/pipelines/export_curation_spreadsheet.nf +++ b/pipelines/export_curation_spreadsheet.nf @@ -2,6 +2,8 @@ nextflow.enable.dsl=2 +include { getTargetOntology } from './utils.nf' + def helpMessage() { log.info""" @@ -37,10 +39,11 @@ codeRoot = "${projectDir}/.." workflow { exportTable() combineManualAndAutomated(exportTable.out.finishedMappings) + getTargetOntology(params.mappings) stripMappingsHeader() mergeWithLatestMappings(combineManualAndAutomated.out.newMappings, stripMappingsHeader.out.previousMappings) checkDuplicates(mergeWithLatestMappings.out.newMappings) - addDateToHeader(checkDuplicates.out.duplicatesOk, mergeWithLatestMappings.out.newMappings) + addMappingsHeader(checkDuplicates.out.duplicatesOk, mergeWithLatestMappings.out.newMappings, getTargetOntology.out.targetOntology) if (params.with_feedback) { createEfoTable(exportTable.out.importTerms) generateZoomaFeedback(mergeWithLatestMappings.out.newMappings) @@ -81,7 +84,6 @@ process exportTable { script: """ - # TODO keep target ontology from header grep -v "^#" ${params.mappings} > previous_mappings.tsv """ } @@ -196,10 +198,9 @@ process checkDuplicates { } /* - * Add generated date to header of final mappings file. + * Add generated date and target ontology to header of final mappings file. */ - // TODO add target ontology to header -process addDateToHeader { +process addMappingsHeader { publishDir "${curationRoot}", overwrite: true, mode: "copy", @@ -208,6 +209,7 @@ process addDateToHeader { input: val duplicatesOk path newMappings + val targetOntology output: path "trait_names_to_ontology_mappings.tsv", emit: finalMappings @@ -215,6 +217,7 @@ process addDateToHeader { script: """ printf '#generated-date=%(%Y-%m-%d)T\n' > trait_names_to_ontology_mappings.tsv + printf '#ontology=${targetOntology}\n' >> trait_names_to_ontology_mappings.tsv cat ${newMappings} >> trait_names_to_ontology_mappings.tsv """ } diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index 07102d69..d64c5e3e 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -2,6 +2,8 @@ nextflow.enable.dsl=2 +include { getTargetOntology } from './utils.nf' + def helpMessage() { log.info""" @@ -44,12 +46,10 @@ workflow { } else { clinvarXml = downloadClinvar() } - - // TODO get target ontology from mappings file - targetOntology = ... + getTargetOntology(params.mappings) parseTraits(clinvarXml) splitTraits(parseTraits.out.parsedTraits) - processTraits(splitTraits.out.traitChunk.flatten(), targetOntology) + processTraits(splitTraits.out.traitChunk.flatten(), getTargetOntology.out.targetOntology) collectAutomatedMappings(processTraits.out.automatedTraits.collect()) collectCurationTraits(processTraits.out.traitsForCuration.collect()) createCurationTable(collectCurationTraits.out.curationTraits) diff --git a/pipelines/utils.nf b/pipelines/utils.nf new file mode 100644 index 00000000..169fa538 --- /dev/null +++ b/pipelines/utils.nf @@ -0,0 +1,16 @@ +/* + * Extract target ontology from mappings file header. Defaults to EFO if missing. + */ +process getTargetOntology { + input: + path mappingsFile + + output: + env ONTOLOGY, emit: targetOntology + + script: + """ + ONTOLOGY=\$(grep '^#ontology=' ${mappingsFile} | sed 's/#ontology=//g') + ONTOLOGY=\${ONTOLOGY:-EFO} + """ +} diff --git a/tests/pipelines/resources/expected/automated_trait_mappings.tsv b/tests/pipelines/resources/expected/automated_trait_mappings.tsv new file mode 100644 index 00000000..957efa35 --- /dev/null +++ b/tests/pipelines/resources/expected/automated_trait_mappings.tsv @@ -0,0 +1,638 @@ +#clinvar_trait_name uri label +ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina +ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency +schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy +mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome +autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia +parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome +autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 +hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever +ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type +normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age +gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes +preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 +steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy +corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia +abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration +pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome +hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 +hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 +ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma +lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency +glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency +premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation +cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system +familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 +aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency +mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder +cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract +progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 +amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta +polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb +polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome +dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy +prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract +cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency +nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O +charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O +cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 +idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum +pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum +familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia +familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome +hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder +charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome +bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease +neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A +retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis +history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder +short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy +congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome +migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 +generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy +dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder +congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis +visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis +malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer +congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E +deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia +long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval +skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age +glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III +autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency +congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 +congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive +weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy +autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis +cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation +autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome +myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure +myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure +tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy +pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome +wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome +bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum +septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy +familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 +hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 +treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism +frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy +monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus +familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B +immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 +hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 +hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 +breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm +retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome +hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma +hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H +congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital +immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 +tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia +ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia +anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores +neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome +developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy +digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome +exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 +exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas +cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia +immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease +3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency +myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome +immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy +progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation +ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis +herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome +developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome +autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S +autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 +autosomal recessive distal spinal muscular atrophy 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome +tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 +peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 +early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism +developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 +arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma +developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG +developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly +hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome +saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia +congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency +congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy +compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract +cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome +oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome +oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome +spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 +familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome +nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy +developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 +joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 +inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease +developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 +autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) +wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease +renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency +pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 +hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma +hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer +malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia +malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 +hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 +beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant +heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia +oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 +melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome +hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome +aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria +epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome +niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A +retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 +hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 +autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism +early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy +tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 +limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency +hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 +autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 +atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency +mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I +familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 +menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease +cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 +adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 +seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood +familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency +congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 +congenital myasthenic syndrome 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 +hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 +hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 +hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 +intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome +hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation +hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 +landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy +actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 +cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis +hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis +chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia +intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 +neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 +familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation +seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris +neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia +chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis +von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome +retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J +primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome +intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency +immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 +immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy +familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia +autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 +glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II +glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency +aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma +myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency +primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia +developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome +intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome +endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm +developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy +gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 +dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 +polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 +fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria +hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 +epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension +oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 +osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome +myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis +fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 +congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation +congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q +epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy +epidermolysis bullosa simplex 5b, with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement +epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia +epidermolysis bullosa simplex 5c, with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex +teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis +dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 +rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease +achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia +tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy +lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy +myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia +ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 +retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 +infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer +xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy +dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin +infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm +squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma +squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma +carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis +mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia +mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C +mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B +breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome +multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 +hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 +severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia +episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 +joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria +larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma +hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 +autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome +hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 +hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 +nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia +short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 +asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 +asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome +neuroblastoma, susceptibility to, 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg +adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy +pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus +holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 +hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome +holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V +spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B +breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm +carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma +sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome +familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome +norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type +hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy +ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 +telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis +meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait +primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension +brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease +neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 +biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency +capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome +multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal +autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 +autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss diff --git a/tests/output_generation/resources/end2end/expected/consequences_repeat.tsv b/tests/pipelines/resources/expected/consequences_repeat.tsv similarity index 100% rename from tests/output_generation/resources/end2end/expected/consequences_repeat.tsv rename to tests/pipelines/resources/expected/consequences_repeat.tsv diff --git a/tests/output_generation/resources/end2end/expected/consequences_snp.tsv b/tests/pipelines/resources/expected/consequences_snp.tsv similarity index 100% rename from tests/output_generation/resources/end2end/expected/consequences_snp.tsv rename to tests/pipelines/resources/expected/consequences_snp.tsv diff --git a/tests/output_generation/resources/end2end/expected/consequences_structural.tsv b/tests/pipelines/resources/expected/consequences_structural.tsv similarity index 100% rename from tests/output_generation/resources/end2end/expected/consequences_structural.tsv rename to tests/pipelines/resources/expected/consequences_structural.tsv diff --git a/tests/pipelines/resources/expected/curator_comments.tsv b/tests/pipelines/resources/expected/curator_comments.tsv new file mode 100644 index 00000000..bbc4ff9e --- /dev/null +++ b/tests/pipelines/resources/expected/curator_comments.tsv @@ -0,0 +1 @@ +gc1/gc2 polymorphism Test comment diff --git a/tests/output_generation/resources/end2end/expected/evidence_strings.json b/tests/pipelines/resources/expected/evidence_strings.json similarity index 100% rename from tests/output_generation/resources/end2end/expected/evidence_strings.json rename to tests/pipelines/resources/expected/evidence_strings.json diff --git a/tests/pipelines/resources/expected/google_sheets_table.tsv b/tests/pipelines/resources/expected/google_sheets_table.tsv new file mode 100644 index 00000000..aeb27817 --- /dev/null +++ b/tests/pipelines/resources/expected/google_sheets_table.tsv @@ -0,0 +1,18 @@ +nephronophthisis 2 NT expansion http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT +gc1/gc2 polymorphism 1 NT expansion http://purl.obolibrary.org/obo/MONDO_0010739|Taqi polymorphism|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_118803|solute carrier family 25 member 22|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0009826|PA polymorphism of alpha-2-globulin|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_122340|guanylate cyclase 2D, retinal|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED +inherited immunodeficiency diseases 2 http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/mesh/D000081207|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED +peroxisome biogenesis disorder 5a (zellweger) 2 http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|cttv|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT https://www.omim.org/entry/614866|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C3553940|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED +frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT +chitotriosidase deficiency 1 http://purl.obolibrary.org/obo/MONDO_0013586|Chitotriosidase deficiency|NOT_SPECIFIED|previously-used|EFO_OBSOLETE +congenital muscular dystrophy, alpha-dystroglycan related 1 http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED +corneal dystrophy, recessive 1 http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED +peroxisome biogenesis disorder 10a (zellweger) 1 http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT http://identifiers.org/medgen/C3553999|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED https://www.omim.org/entry/614882|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED +severe myoclonic epilepsy in infancy 1 http://www.orpha.net/ORDO/Orphanet_33069|Dravet syndrome|NOT_SPECIFIED|previously-used|EFO_OBSOLETE http://purl.obolibrary.org/obo/MONDO_0014960|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|NOT_SPECIFIED|replacement|NOT_CONTAINED http://www.ebi.ac.uk/efo/EFO_1001900|myoclonic epilepsy|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0002123|Generalized myoclonic seizure|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0100079|developmental and epileptic encephalopathy, 6|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0011170|Generalized myoclonic-atonic seizure|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0100135|Dravet syndrome|2|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0014328|developmental and epileptic encephalopathy, 19|2|Orphanet:33069|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0012812|developmental and epileptic encephalopathy, 4|2|Orphanet:33069|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0100062|developmental and epileptic encephalopathy|3|Orphanet:33069|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0016022|early myoclonic encephalopathy|3|Orphanet:33069|EFO_CURRENT +isolated nonsyndromic congenital heart disease 1 http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED +hypogonadotropic hypogonadism 3 with or without anosmia 1 http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT http://identifiers.org/medgen/C3550478|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED https://www.omim.org/entry/244200|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED +elfn1-related condition 1 http://purl.obolibrary.org/obo/MONDO_0045054|cancer-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0021074|precancerous condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/HP_0025256|Ameliorated by heat|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0032522|Ameliorated by immunosuppresion|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_568065|EPHB4-related lymphatic-related hydrops fetalis|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED +chédiak-higashi syndrome 1 http://www.orpha.net/ORDO/Orphanet_167|Chédiak-Higashi syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT +2-aminoadipic 2-oxoadipic aciduria 1 http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|NOT_SPECIFIED|previously-used|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|EFO_CURRENT https://www.omim.org/entry/204750|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/C1859817|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED +tp63-related spectrum disorders 1 http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED +autosomal dominant kcnq1-related disease 1 http://purl.obolibrary.org/obo/MONDO_0018832|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://purl.obolibrary.org/obo/MONDO_0000426|autosomal dominant disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT http://www.orpha.net/ORDO/Orphanet_482077|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_497757|MME-related autosomal dominant Charcot Marie Tooth disease type 2|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0000006|Autosomal dominant inheritance|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED +simvastatin response - toxicity 1 http://www.orpha.net/ORDO/Orphanet_240913|OBSOLETE: Simvastatin toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://www.orpha.net/ORDO/Orphanet_529831|Letrozole toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0027653|abacavir toxicity|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED http://purl.obolibrary.org/obo/MONDO_0023176|formaldehyde poisoning|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED diff --git a/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv new file mode 100644 index 00000000..d328fd46 --- /dev/null +++ b/tests/pipelines/resources/expected/trait_names_to_ontology_mappings.tsv @@ -0,0 +1,2297 @@ +#generated-date=2023-12-13 +#ontology=EFO +#clinvar_trait_name uri label +2-aminoadipic 2-oxoadipic aciduria http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria +3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis +abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration +achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 +acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia +adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy +adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy +aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome +amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta +amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 +amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy +anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) +ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve +aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency +arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma +arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 +arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 +aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria +asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 +asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia +ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia +ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome +autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome +autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis +autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features +autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy +autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 +autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 +autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type +autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis +autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 +autosomal recessive distal spinal muscular atrophy 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 +autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy +beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome +biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency +blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm +breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 +breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 +breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome +carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma +carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency +cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract +cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O +charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H +charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis +chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia +chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis +chédiak-higashi syndrome http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome +cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC +coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation +cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome +collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy +colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency +combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy +compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type +cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis +congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 +congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome +congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency +congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 +congenital myasthenic syndrome 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores +corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome +cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease +deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia +deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria +deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 +developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome +developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy +developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 +developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome +diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome +dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 +dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 +dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder +dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin +early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism +ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer +ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency +epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy +epidermolysis bullosa simplex 5b, with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia +epidermolysis bullosa simplex 5c, with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia +epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement +epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy +episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 +episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 +episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia +exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 +exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas +exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency +familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 +familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma +familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia +familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia +familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis +familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 +familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis +familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets +familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia +fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 +fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +frontometaphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria +galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease +generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia +gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism +glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency +glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III +glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II +glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency +glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy +gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency +hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome +hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome +hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome +hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma +hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer +hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia +hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 +hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma +hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 +hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 +hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 +hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 +hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 +hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 +hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 +hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 +hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 +hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 +hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 +hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 +hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 +hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 +hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation +hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 +hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 +hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 +hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 +herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 +herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant +heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia +history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder +holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 +holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 +hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 +hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever +hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome +hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 +hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 +hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 +hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 +hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis +hypogonadotropic hypogonadism 3 with or without anosmia http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia +hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 +hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis +idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis +immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 +immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 +immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 +immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis +immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 +inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder +inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis +inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease +intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome +intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 +intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability +intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 +intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm +jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 +joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency +landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age +larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart +limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy +lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval +long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation +malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 +malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia +malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm +malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer +malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer +malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy +melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome +menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease +metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency +mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome +microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome +migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 +mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus +mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 +mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B +mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C +mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency +multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 +multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations +multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 +myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy +myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy +myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy +myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure +myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome +nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nephronophthisis http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome +neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome +neuroblastoma, susceptibility to, 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 +neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder +neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 +neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease +neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 +neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 +neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy +niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A +niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome +norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type +obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency +oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 +oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome +oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome +ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency +ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina +osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 +paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg +parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder +paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia +peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 10a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) +peroxisome biogenesis disorder 5a (zellweger) http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome +pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome +pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome +pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus +pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome +pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris +pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb +polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome +polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 +polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 +preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension +progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 +progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood +prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency +propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia +prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria +pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum +psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy +renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma +retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration +retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy +retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 +retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome +ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders +saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome +seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia +septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy +short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome +short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age +sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 +spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type +squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma +squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 +steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency +teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome +telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 +thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy +toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait +tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency +treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 +usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment +von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease +wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive +weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency +3 methylcrotonyl-coa carboxylase 1 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +3-methylcrotonyl coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +3-methylcrotonyl-coa carboxylase 1 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +6-pyruvoyl-tetrahydrobiopterin synthase deficiency http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency +6-pyruvoyl-tetrahydropterin synthase deficiency http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency +abnormality of the cardiovascular system http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system +achondrogenesis, type ii http://www.orpha.net/ORDO/Orphanet_932 Achondrogenesis +achromatopsia http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 3 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 4 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 5 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 6 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +achromatopsia 7 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +acrocallosal syndrome, schinzel type http://www.orpha.net/ORDO/Orphanet_36 Acrocallosal syndrome +acromesomelic dysplasia maroteaux type http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type +acromesomelic dysplasia, maroteaux type http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type +adams-oliver syndrome http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 1 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 2 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 3 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 4 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adams-oliver syndrome 6 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +agammaglobulinemia http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia +agnathia-otocephaly complex http://www.orpha.net/ORDO/Orphanet_990 Agnathia-holoprosencephaly-situs inversus syndrome +aicardi goutieres syndrome http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi goutieres syndrome 2 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi goutieres syndrome 3 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi goutieres syndrome 4 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 6 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 8 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 9 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +alagille syndrome 1 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome +alagille syndrome 2 http://www.orpha.net/ORDO/Orphanet_52 Alagille syndrome +alopecia congenita keratosis palmoplantaris http://www.orpha.net/ORDO/Orphanet_1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia +alopecia mental retardation syndrome 1 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome +alopecia-intellectual disability syndrome 1 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome +alopecia-intellectual disability syndrome 4 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome +alopecia-mental retardation syndrome 4 http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome +alpha-1-antitrypsin deficiency http://www.orpha.net/ORDO/Orphanet_60 Alpha-1-antitrypsin deficiency +alpha-2-plasmin inhibitor deficiency http://www.orpha.net/ORDO/Orphanet_79 Congenital alpha2-antiplasmin deficiency +amyotrophic lateral sclerosis http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 1, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 13 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 14, with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 15, with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 17 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 18 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 19 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 20 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 21 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 22 with or without frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis 6, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 10 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 11 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 12 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 23 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 5 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 6 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 8 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 9 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis, typical http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis/frontotemporal dementia http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophy, hereditary neuralgic http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy +anauxetic dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia +anauxetic dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia +anauxetic dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia +anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +anemia, congenital dyserythropoietic, type 1a http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +anemia, congenital dyserythropoietic, type ib http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +antithrombin iii deficiency http://www.orpha.net/ORDO/Orphanet_82 Hereditary thrombophilia due to congenital antithrombin deficiency +aortic aneurysm, familial thoracic 10 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 11, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 2 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 4 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 8 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 9 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection +aortic valve disease 3 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve +apolipoprotein a-i (giessen) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (marburg) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (milano) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster3b) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster3c) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (munster4) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i (norway) http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +apolipoprotein a-i deficiency http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +arginase deficiency http://www.orpha.net/ORDO/Orphanet_90 Argininemia +armc9-related joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +arrhythmogenic right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 11 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 12 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 5 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 8 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular cardiomyopathy, type 9 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 9 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia, familial, 13 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia +arrhythmogenic right ventricular dysplasia, familial, 2 http://www.orpha.net/ORDO/Orphanet_217656 Familial isolated arrhythmogenic right ventricular dysplasia +arrhythmogenic right ventricular dysplasia/cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +aspartylglucosaminuria, finnish type http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria +asphyxiating thoracic dystrophy 2 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +asphyxiating thoracic dystrophy 4 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +asphyxiating thoracic dystrophy 5 http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +ataxia, spastic, 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia, spastic, 3, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia, spastic, 4, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +ataxia-telangiectasia-like disorder 1 http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +ataxia-telangiectasia-like disorder 2 http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +atrial septal defect http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 1 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 2 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 3 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 4 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 6 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 7 with or without atrioventricular conduction defects http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 8 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +atrial septal defect 9 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +autism http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 1 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 10 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 15 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 16 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 17 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 5 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism 9 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, severe http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, 18 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, 19 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, 20 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 1 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 2 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 4 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 5 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autism, susceptibility to, x-linked 6 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autistic behavior http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +autistic disorder http://www.ebi.ac.uk/efo/EFO_0003758 autism +autistic disorder of childhood onset http://www.ebi.ac.uk/efo/EFO_0003758 autism +autoimmune interstitial lung, joint, and kidney disease http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease +autosomal recessive congenital ichthyosis http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 1 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 10 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 2 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 3 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 4a http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 4b http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 6 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 8 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive congenital ichthyosis 9 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis +autosomal recessive limb-girdle muscular dystrophy type 2r http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +bardet-biedl syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 13 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 15 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 17 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 18 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 19 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 2/6, digenic http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 21 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 22 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 6/10, digenic http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bare lymphocyte syndrome 2 http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +bare lymphocyte syndrome type 1 http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +bare lymphocyte syndrome type 2, complementation group e http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +bare lymphocyte syndrome, type ii, complementation group b http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +bare lymphocyte syndrome, type ii, complementation group d http://www.orpha.net/ORDO/Orphanet_572 Immunodeficiency by defective expression of MHC class II +becker muscular dystrophy, atypical http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy +benign familial neonatal-infantile seizures http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +benign scapuloperoneal muscular dystrophy with cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +bh4-deficient hyperphenylalaninemia a http://www.orpha.net/ORDO/Orphanet_13 6-pyruvoyl-tetrahydropterin synthase deficiency +bile acid malabsorption, primary http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +blepharophimosis, ptosis, and epicanthus inversus http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 http://www.orpha.net/ORDO/Orphanet_126 Blepharophimosis-ptosis-epicanthus inversus syndrome +blue sclerae http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +breast cancer http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma +breast cancer, early-onset http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma +breast-ovarian cancer, familial 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +breast-ovarian cancer, familial 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +breast-ovarian cancer, familial 3 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +breast-ovarian cancer, familial 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +brittle cornea syndrome 1 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +brugada syndrome (shorter-than-normal qt interval) http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 3 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 4 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 9 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +capillary malformation-arteriovenous malformation http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation +capillary malformation-arteriovenous malformation 1 http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation +capillary malformation-arteriovenous malformation 2 http://www.orpha.net/ORDO/Orphanet_137667 Capillary malformation-arteriovenous malformation +carbonic anhydrase va deficiency, hyperammonemia due to http://www.orpha.net/ORDO/Orphanet_401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +cardiac arrhythmia, ankyrin b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +cardiomyopathy, apical hypertrophic, and neuropathy http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +cardiomyopathy, dilated, 1nn http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +cardiomyopathy, dilated, 1u http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +cardiomyopathy, dilated, 2b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +cardiomyopathy, dilated, 2c http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with woolly hair and keratoderma +cardiomyopathy, familial hypertrophic http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +cardiomyopathy, familial hypertrophic 27 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +cardiomyopathy, familial hypertrophic, 26 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +cardiomyopathy, fatal http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +cardiomyopathy, left ventricular noncompaction http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction +carnitine palmitoyl transferase 1 deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyltransferase 1a deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +carnitine palmitoyltransferase i deficiency http://www.orpha.net/ORDO/Orphanet_156 Carnitine palmitoyl transferase 1A deficiency +cataract http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 1 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 11 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 15, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract +cataract 16, multiple types http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +cataract 19, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 21, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 23, multiple types http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 30 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 33, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 34, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 39, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 4 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 40 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 41 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 43 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 44 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 45 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 48 http://purl.obolibrary.org/obo/MONDO_0005129 cataract +cataract 6, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract 9, multiple types http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract hutterite type http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98991 Early-onset nuclear cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract +cataract, autosomal recessive congenital 2 http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +cataract, autosomal recessive congenital 4 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, autosomal recessive congenital 5 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital nuclear, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital nuclear, autosomal recessive 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, congenital zonular, with sutural opacities http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +cataract, posterior polar, 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +catecholaminergic polymorphic ventricular tachycardia 1 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +catecholaminergic polymorphic ventricular tachycardia 2 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +catecholaminergic polymorphic ventricular tachycardia 3 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +catecholaminergic polymorphic ventricular tachycardia 4 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +catecholaminergic polymorphic ventricular tachycardia 5 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +catsper-related male infertility http://www.orpha.net/ORDO/Orphanet_276234 Non-syndromic male infertility due to sperm motility disorder +cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia +ceroid lipofuscinosis, neuronal, 11 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +ceroid lipofuscinosis, neuronal, 13 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +ceroid lipofuscinosis, neuronal, 6a http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +charcot-marie-tooth disease type 2b1 http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease type 2d http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease type 4b2 with early-onset glaucoma http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 +charcot-marie-tooth disease, type 2m http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth neuropathy x http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charlevoix-saguenay spastic ataxia http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay +chediak-higashi syndrome, childhood type http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome +chilblain lupus http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chilblain lupus 2 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chitotriosidase deficiency http://purl.obolibrary.org/obo/MONDO_0013586 Chitotriosidase deficiency +chondroectodermal dysplasia http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome +choreaacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +choreoacanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +ciliary dyskinesia, primary, 36, x-linked http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +ciliary dyskinesia, primary, 41 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +ciliary dyskinesia, primary, 42 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +classical galactosemia, homozygous duarte-type http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +coffin siris/intellectual disability http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 10 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 11 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 6 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 7 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +coffin-siris syndrome 8 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +collagen vi-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy +colobomatous optic disc-macular atrophy-chorioretinopathy syndrome http://www.orpha.net/ORDO/Orphanet_2543 OBSOLETE: Microphthalmia-cataract syndrome +colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer 10 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer 3 http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer, hereditary nonpolyposis, type 4 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, hereditary nonpolyposis, type 5 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, hereditary nonpolyposis, type 6 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, hereditary nonpolyposis, type 7 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, hereditary nonpolyposis, type 8 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, hereditary, nonpolyposis, type 1 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +colorectal cancer, non-polyposis http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +colorectal cancer, susceptibility to http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +combined immunodeficiency due to zap70 deficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency +combined malonic and methylmalonic aciduria http://www.orpha.net/ORDO/Orphanet_289504 Combined malonic and methylmalonic acidemia +combined oxidative phosphorylation deficiency 1 http://www.orpha.net/ORDO/Orphanet_137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +conduction disorder of the heart http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +cone dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone dystrophy 4 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone dystrophy 5, x-linked http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone monochromatism http://www.orpha.net/ORDO/Orphanet_16 Blue cone monochromatism +cone rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod degeneration http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 10 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 11 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 12 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 13 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 15 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 16 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 18 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 19 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 2 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 20 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 21 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 6 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 7 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy 9 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy x-linked 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy, aipl1-related http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone-rod dystrophy, x-linked 1 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +cone/cone-rod dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +congenital aneurysm of ascending aorta http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +congenital bilateral absence of the vas deferens http://www.orpha.net/ORDO/Orphanet_48 Congenital bilateral absence of vas deferens +congenital cataract http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract +congenital disorder of glycosylation type 1b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1f http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1i http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1m http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1n http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1o http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1p http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1q http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1t http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 1u http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2b http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2c http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2d http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2h http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2j http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2k http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation type 2l http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital disorder of glycosylation, type ia http://www.orpha.net/ORDO/Orphanet_137 Congenital disorder of glycosylation +congenital dyserythropoietic anemia type type 1b http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +congenital hyperammonemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +congenital hypoplastic anemia http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +congenital muscular dystrophy with integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +congenital muscular hypertrophy-cerebral syndrome http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +congenital myasthenic syndrome http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 12 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 13 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 1a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 1b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 3b http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 4c http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome, acetazolamide-responsive http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +conotruncal anomaly face syndrome/velocardiofacial syndrome http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +corneal dystrophy, fuchs endothelial 1 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 4 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 6 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal dystrophy, fuchs endothelial, 8 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +corneal endothelial dystrophy http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +cornelia de lange syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +cornelia de lange syndrome 4 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +cornelia de lange syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +costello syndrome, severe http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome +cowden syndrome http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 4 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cowden syndrome 7 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cranioectodermal dysplasia http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +cranioectodermal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +cranioectodermal dysplasia 3 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +cranioectodermal dysplasia 4 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +craniometaphyseal dysplasia, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia +crohn disease http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease +cutis laxa, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, autosomal dominant 3 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cystic parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +dandy-walker like malformation with atrioventricular septal defect http://www.orpha.net/ORDO/Orphanet_7 3C syndrome +de lange syndrome http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome +deafness http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 1 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 10 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 11 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 12 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 13 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 15 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 16 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 22 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 36 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 3a http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 4 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 41 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 44 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 5 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 51 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 56 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 64 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 65 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 66 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 67 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 68 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 69 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 70 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 71 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 72 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal dominant 9 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 101 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 102 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 103 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 104 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 106 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 107 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 108 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 12 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 15 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 18 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 2 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 21 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 22 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 23 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 24 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 25 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 28 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 29 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 3 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 30 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 31 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 32 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 35 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 37 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 39 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 42 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 44 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 48 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 49 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 53 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 59 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 6 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 61 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 63 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 66 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 67 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 68 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 7 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 70 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 74 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 76 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 77 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 79 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 8 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 84 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 86 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 88 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 89 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 9 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 91 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 93 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 97 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deafness, autosomal recessive 98 http://www.ebi.ac.uk/efo/EFO_0001063 deafness +deficiency of glycerate kinase http://www.orpha.net/ORDO/Orphanet_941 D-glyceric aciduria +dentatorubral pallidoluysian atrophy http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy +dentatorubral-pallidoluysian atrophy http://www.orpha.net/ORDO/Orphanet_101 Dentatorubral pallidoluysian atrophy +developmental and epileptic encephalopathy 92 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +developmental and epileptic encephalopathy, 3 http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +developmental and epileptic encephalopathy, 3 http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy +developmental and epileptic encephalopathy, 56 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 57 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 58 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 60 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 63 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 64 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 67 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy, 67 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 68 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 69 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 70 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 71 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 72 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 73 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 74 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 75 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 76 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 77 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 78 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 79 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 80 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 81 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 85, with or without midline brain defects http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +diamond-blackfan anemia http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 1 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 11 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 12 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 13 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 14 with mandibulofacial dysostosis http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 15 with mandibulofacial dysostosis http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 16 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 17 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 18 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 19 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 20 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 3 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 4 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 5 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 6 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 7 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 8 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia 9 http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +diamond-blackfan anemia-like http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia +dicer1-related pleuropulmonary blastoma cancer predisposition syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +diffuse nonepidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +digeorge sequence http://www.orpha.net/ORDO/Orphanet_567 22q11.2 deletion syndrome +dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1a http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1aa http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1bb http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1c http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1cc http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1e http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1ee http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1ff http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1gg http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1hh http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1i http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1ii http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1jj http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1ll http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1m http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1n http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1p http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1s http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1v http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1x http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy +dilated cardiomyopathy 1y http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 1z http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy 3b http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +dilated cardiomyopathy with woolly hair and keratoderma http://www.orpha.net/ORDO/Orphanet_65282 Carvajal syndrome +distal myopathy markesbery-griggs type http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type +distal myopathy with rimmed vacuoles http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +duane syndrome type 2 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome +duane syndrome type 3 http://www.orpha.net/ORDO/Orphanet_233 Duane retraction syndrome +dysgnathia complex http://www.orpha.net/ORDO/Orphanet_990 Agnathia-holoprosencephaly-situs inversus syndrome +dystonia http://purl.obolibrary.org/obo/HP_0001332 Dystonia +dystonia 5 http://purl.obolibrary.org/obo/HP_0001332 Dystonia +early infantile epileptic encephalopathy http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 10 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 11 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 12 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 13 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 14 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 15 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 16 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 17 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 18 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 21 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 34 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 4 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 5 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 55 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 59 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 61 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 62 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 7 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 8 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early infantile epileptic encephalopathy 9 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +early onset epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal http://www.orpha.net/ORDO/Orphanet_248 Autosomal recessive hypohidrotic ectodermal dysplasia +ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +ectopia lentis, isolated autosomal recessive http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis +ectopia lentis, isolated, autosomal dominant http://www.orpha.net/ORDO/Orphanet_1885 Isolated ectopia lentis +ehlers-danlos syndrome, arthrochalasia type, 1 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +ehlers-danlos syndrome, procollagen proteinase deficient http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +emery-dreifuss muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 2, autosomal dominant http://www.orpha.net/ORDO/Orphanet_261 Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 3, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 6 http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 7, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +endometrial neoplasm http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm +endplate acetylcholinesterase deficiency http://www.orpha.net/ORDO/Orphanet_98915 Synaptic congenital myasthenic syndromes +epidermodysplasia verruciformis, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermodysplasia verruciformis, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermodysplasia verruciformis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermodysplasia verruciformis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermodysplasia verruciformis, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis +epidermolysa bullosa simplex and limb girdle muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy +epidermolysis bullosa simplex with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia +epidermolysis bullosa simplex, autosomal recessive 2 http://www.orpha.net/ORDO/Orphanet_304 Epidermolysis bullosa simplex +epilepsy, familial adult myoclonic, 1 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial adult myoclonic, 4 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial adult myoclonic, 5 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial adult myoclonic, 6 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial adult myoclonic, 7 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, familial focal, with variable foci 1 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +epilepsy, familial focal, with variable foci 2 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +epilepsy, familial focal, with variable foci 3 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +epilepsy, familial focal, with variable foci 4 http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +epilepsy, focal, with speech disorder and with or without mental retardation http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome +epilepsy, idiopathic generalized, susceptibility to http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +epilepsy, idiopathic generalized, susceptibility to, 12 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +epilepsy, idiopathic generalized, susceptibility to, 14 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +epilepsy, idiopathic generalized, susceptibility to, 15 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +epilepsy, idiopathic generalized, susceptibility to, 16 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +epilepsy, nocturnal frontal lobe, 5 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 1 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 3 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, nocturnal frontal lobe, type 4 http://www.orpha.net/ORDO/Orphanet_98784 Autosomal dominant nocturnal frontal lobe epilepsy +epilepsy, progressive myoclonic 1a (unverricht and lundborg) http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +epileptic encephalopathy lennox-gastaut type http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +epileptic encephalopathy, childhood-onset http://www.orpha.net/ORDO/Orphanet_98259 Childhood-onset epilepsy syndrome +epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 1 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 19 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome +epileptic encephalopathy, early infantile, 23 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +epileptic encephalopathy, early infantile, 24 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 25 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 26 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +epileptic encephalopathy, early infantile, 26 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 27 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 28 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +epileptic encephalopathy, early infantile, 28 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 29 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +epileptic encephalopathy, early infantile, 29 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 30 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 31 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome +epileptic encephalopathy, early infantile, 32 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 33 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +epileptic encephalopathy, early infantile, 33 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 35 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG +epileptic encephalopathy, early infantile, 37 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 38 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 40 http://www.orpha.net/ORDO/Orphanet_3451 Infantile spasms syndrome +epileptic encephalopathy, early infantile, 41 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 42 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 43 http://www.orpha.net/ORDO/Orphanet_2382 Lennox-Gastaut syndrome +epileptic encephalopathy, early infantile, 44 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 45 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 46 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 47 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 48 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 49 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 51 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 52 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 53 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 54 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 56 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 57 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 58 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 60 http://www.orpha.net/ORDO/Orphanet_3451 West syndrome +epileptic encephalopathy, early infantile, 63 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 64 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 76 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, early infantile, 82 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 1 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 2 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood 3 http://www.orpha.net/ORDO/Orphanet_1934 Early infantile epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood, 1 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood, 2 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +epileptic encephalopathy, infantile or early childhood, 3 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +episodic ataxia http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia +erythrocytosis, familial, 2 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia +erythrocytosis, familial, 4 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation +erythrocytosis, familial, 5 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation +erythrocytosis, familial, 7 http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation +esophageal carcinoma, somatic http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +exudative vitreoretinopathy http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy 4 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy 5 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy 6 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy 7 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +exudative vitreoretinopathy, x-linked http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +factor xii (tenri) http://www.orpha.net/ORDO/Orphanet_330 Congenital factor XII deficiency +factor xiii subunit b deficiency http://www.orpha.net/ORDO/Orphanet_331 Congenital factor XIII deficiency +familial abdominal aortic aneurysm 1 http://www.orpha.net/ORDO/Orphanet_86 Familial abdominal aortic aneurysm +familial adenomatous polyposis http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis +familial adenomatous polyposis 3 http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis +familial adenomatous polyposis 4 http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis +familial aortopathy http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial cold autoinflammatory syndrome 2 http://www.orpha.net/ORDO/Orphanet_247868 NLRP12-associated hereditary periodic fever syndrome +familial colorectal cancer http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +familial erythrocytosis http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation +familial erythrocytosis, 1 http://www.orpha.net/ORDO/Orphanet_90042 Primary familial polycythemia +familial exudative vitreoretinopathy http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +familial exudative vitreoretinopathy, x-linked http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +familial febrile seizures http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +familial febrile seizures 8 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +familial hemiplegic migraine http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine +familial hemophagocytic lymphohistiocytosis http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hyperaldosteronism http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +familial hypercholesterolemia 1 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypercholesterolemia 2 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypercholesterolemia 3 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypercholesterolemia 4 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypercholesterolemias http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypertrophic cardiomyopathy 1 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 10 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 11 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 12 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 13 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 14 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 15 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 16 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 17 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 18 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 19 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 2 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 20 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 22 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 23 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 24 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 3 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 4 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 6 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 7 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 8 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypertrophic cardiomyopathy 9 http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +familial hypoalphalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +familial idiopathic steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +familial mediterranean fever, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial prostate carcinoma http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +familial thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections +fanconi anemia, complementation group m http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +farber disease http://www.orpha.net/ORDO/Orphanet_333 Farber disease +fetal akinesia sequence http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence +fg syndrome http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fg syndrome 2 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +focal segmental glomerulosclerosis 3, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +focal segmental glomerulosclerosis 4, susceptibility to http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +focal seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure +friedreich's ataxia http://www.orpha.net/ORDO/Orphanet_95 Friedreich ataxia +frontometaphyseal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +frontometaphyseal dysplasia 2 http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia +galactosemia http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +generalized epilepsy with atypical absence and tonic/myoclonic seizures http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy +generalized epilepsy with febrile seizures plus http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus 3 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus type 5 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 1 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 10 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 9 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized juvenile polyposis/juvenile polyposis coli http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +gestational diabetes http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes +glanzmann thrombasthenia http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +glanzmann thrombasthenia 2 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +global developmental delay with or without impaired intellectual development http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glutaric aciduria, type 2 http://purl.obolibrary.org/obo/HP_0003150 Glutaric aciduria +glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency +gluthathione synthetase deficiency http://www.orpha.net/ORDO/Orphanet_32 Glutathione synthetase deficiency +glycogen storage disease of heart, lethal congenital http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart +goldmann-favre syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +gyrate atrophy http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina +hamartoma http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome +hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency http://www.orpha.net/ORDO/Orphanet_712 Hemolytic anemia due to glucophosphate isomerase deficiency +hemophagocytic lymphohistiocytosis, familial, 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hemophagocytic lymphohistiocytosis, familial, 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hemophagocytic lymphohistiocytosis, familial, 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hemophagocytic lymphohistiocytosis, familial, 5 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hemophagocytic lymphohistiocytosis, familial, 6 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +hennekam lymphangiectasia-lymphedema syndrome 3 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome +hereditary breast and ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome +hereditary breast cancer http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer +hereditary cancer syndrome http://www.orpha.net/ORDO/Orphanet_140162 Inherited cancer-predisposing syndrome +hereditary diffuse gastric cancer http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer +hereditary hemorrhagic telangiectasia type 1 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +hereditary hemorrhagic telangiectasia type 2 http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +hereditary hyperekplexia http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hereditary late onset parkinson disease http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease +hereditary myopathy with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure +hereditary nonpolyposis colon cancer http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 4 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 5 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 6 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 7 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal cancer type 8 http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +hereditary nonpolyposis colorectal carcinoma http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma +hereditary orotic aciduria, type 1 http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria +hereditary sensory and autonomic neuropathy http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy +hereditary sensory and autonomic neuropathy type ii http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hereditary sensory and autonomic neuropathy type iia http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hereditary sensory and autonomic neuropathy type iic http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +hermansky-pudlak syndrome http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 10 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 2 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis +hermansky-pudlak syndrome 7 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 8 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 9 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +herpes simplex encephalitis 1 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis 2 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 7 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +holoprosencephaly http://www.orpha.net/ORDO/Orphanet_2162 Holoprosencephaly +holoprosencephaly 1 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 11 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 13, x-linked http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 2 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 3 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 4 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 7 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +holoprosencephaly 9 http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +homocystinuria http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +hyper-ige recurrent infection syndrome 4, autosomal recessive http://www.orpha.net/ORDO/Orphanet_169446 OBSOLETE: Autosomal recessive hyper-IgE syndrome +hyperaldosteronism, familial, type i http://www.orpha.net/ORDO/Orphanet_403 Familial hyperaldosteronism type I +hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hypercholesterolemia, autosomal dominant, type b http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hypercholesterolemia, autosomal recessive http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hypercholesterolemia, familial, 4 http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +hyperekplexia 1 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperekplexia 2 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperekplexia 4 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperferritinemia cataract syndrome http://www.orpha.net/ORDO/Orphanet_163 Hereditary hyperferritinemia-cataract syndrome +hyperlipoproteinemia, type id http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 +hypoalphalipoproteinemia, primary, 2 http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency +hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +hypokalemic periodic paralysis http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis +hypomyelinating leukodystrophy 3 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +hypomyelinating leukodystrophy 7 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +idiopathic fibrosing alveolitis, chronic form http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis +idiopathic pulmonary arterial hypertension http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension +immune dysfunction with t-cell inactivation due to calcium entry defect 1 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction +immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_169090 Combined immunodeficiency due to CRAC channel dysfunction +immune dysfunction with t-cell inactivation due to calcium entry defect 2 http://www.orpha.net/ORDO/Orphanet_317430 Combined immunodeficiency due to STIM1 deficiency +immunodeficiency 11 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 12 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 13 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 14 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 15 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 16 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 17 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 18 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 22 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 24 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 26 with or without neurologic abnormalities http://www.orpha.net/ORDO/Orphanet_317425 Severe combined immunodeficiency due to DNA-PKcs deficiency +immunodeficiency 28 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 29 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 30 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 36 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 37 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 39 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 40 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 42 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 44 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 45 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 46 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 49 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 50 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 52 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 53 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 8 http://www.orpha.net/ORDO/Orphanet_179006 Primary immunodeficiency due to a defect in adaptive immunity +indifference to pain, congenital, autosomal recessive http://www.orpha.net/ORDO/Orphanet_970 Hereditary sensory and autonomic neuropathy type 2 +infantile encephalopathy http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +insulin-like growth factor i deficiency http://www.orpha.net/ORDO/Orphanet_73272 Growth delay due to insulin-like growth factor type 1 deficiency +intellectual deficiency http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability, profound http://www.ebi.ac.uk/efo/EFO_0003847 intellectual disability +intellectual functioning disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +interstitial lung disease 1 http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease +interstitial pulmonary abnormality http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease +intractable seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +isolated ectopia lentis http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +johanson-blizzard syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness +joubert syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 12/15, digenic http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 14 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 15 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 16 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 17 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 18 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 19 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 21 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 23 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 24 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 26 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 27 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 28 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 30 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 31 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 32 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 33 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 34 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 35 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 9/15, digenic http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome and related disorders http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +kallmann syndrome 1 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 2 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 3 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 5 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kallmann syndrome 6 http://www.orpha.net/ORDO/Orphanet_478 Kallmann syndrome +kleefstra syndrome 1 http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome +krabbe disease, atypical, due to saposin a deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease +lamellar cataract http://www.orpha.net/ORDO/Orphanet_98995 Early-onset zonular cataract +laminin alpha 2-related dystrophy http://www.ebi.ac.uk/efo/EFO_0009138 laminin alpha 2-related dystrophy +larsen syndrome, dominant type http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +lchad deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +leber congenital amaurosis http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 1 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 10 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 11 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 12 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 13 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 15 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 16 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 17 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 18 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +leber congenital amaurosis 19 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 2 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 3 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 4 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 5 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 6 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 7 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 8 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis 9 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +leber congenital amaurosis with early-onset deafness http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +left ventricular noncompaction 6 http://www.orpha.net/ORDO/Orphanet_54260 Left ventricular noncompaction +leigh syndrome due to mitochondrial complex iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency +leiner disease http://www.orpha.net/ORDO/Orphanet_314 Erythroderma desquamativum +lennox-gastaut syndrome http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +leptin deficiency or dysfunction http://www.orpha.net/ORDO/Orphanet_66628 Obesity due to congenital leptin deficiency +leukemia, acute myeloid, m0 subtype http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia +leukodystrophy, hypomyelinating 3 http://www.orpha.net/ORDO/Orphanet_289494 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism +leukodystrophy, hypomyelinating, 11 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +leukodystrophy, hypomyelinating, 12 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +leukodystrophy, hypomyelinating, 13 http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +limb-girdle muscular dystrophy, type 1a http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1c http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 1f http://www.orpha.net/ORDO/Orphanet_55595 TNP03-related limb-girdle muscular dystrophy D2 +limb-girdle muscular dystrophy, type 2b http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2d http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2e http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2f http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2g http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2j http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2l http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy, type 2q http://www.orpha.net/ORDO/Orphanet_254361 Plectin-related limb-girdle muscular dystrophy R17 +limb-girdle muscular dystrophy, type 2s http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c2 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c3 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c5 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +limb-girdle muscular dystrophy-dystroglycanopathy, type c9 http://www.orpha.net/ORDO/Orphanet_263 Limb-girdle muscular dystrophy +lipase deficiency combined http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 +lipase deficiency, combined http://www.orpha.net/ORDO/Orphanet_411 Hyperlipoproteinemia type 1 +lissencephaly 2 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 3 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 4 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 5 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +lissencephaly 6, with microcephaly http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly +liver failure acute infantile http://www.orpha.net/ORDO/Orphanet_217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +lobar holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +long qt syndrome 1/2, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 10 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +long qt syndrome 11 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +long qt syndrome 12 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +long qt syndrome 14 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +long qt syndrome 2/3, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 2/5 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 2/9, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 3/6, digenic http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 4 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 6 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long qt syndrome 9 http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +long-chain 3-hydroxyacyl-coa dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +lopes-maciel-rodan syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +lynch syndrome i http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +lynch syndrome ii http://www.orpha.net/ORDO/Orphanet_144 Lynch syndrome +lynch-like syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +macular degeneration, x-linked atrophic http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +macular dystrophy, vitelliform, 4 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +macular dystrophy, vitelliform, 5 http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +macular dystrophy, vitelliform, adult-onset http://www.orpha.net/ORDO/Orphanet_99000 Adult-onset foveomacular vitelliform dystrophy +malignant colorectal neoplasm http://www.ebi.ac.uk/efo/EFO_0005842 colorectal cancer +malignant hyperthermia susceptibility http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 +malignant hyperthermia susceptibility type 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 +malignant hyperthermia, susceptibility to, 1 http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 +mandibuloacral dysostosis http://www.orpha.net/ORDO/Orphanet_2457 Mandibuloacral dysplasia +mandibulofacial dysostosis, treacher collins type, autosomal recessive http://www.orpha.net/ORDO/Orphanet_861 Treacher-Collins syndrome +marfan syndrome, atypical http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome, mild http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome, mild variable http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome, severe classic http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome +marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections http://www.ebi.ac.uk/efo/EFO_0009299 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections +meckel syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 10 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 11 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 3 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 5 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 9 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meester-loeys syndrome http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts +megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation http://www.orpha.net/ORDO/Orphanet_2478 Megalencephalic leukoencephalopathy with subcortical cysts +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +men2 phenotype: unclassified http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +menkes disease, mild http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease +mental retardation 21, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 3, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 30, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 46, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 49, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 58, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 63, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 9, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation 91, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, anterior maxillary protrusion, and strabismus http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 10 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 11 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 13 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 14 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 15 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 16 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 22 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 23 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 24 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 26 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 27 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 29 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 30 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 32 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 33 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 35 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 36 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 40 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 42 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 43 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 44 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 45 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 46 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 47 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 5 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 6 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, autosomal dominant 9 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, fra12a type http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, psychosocial http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +mental retardation, psychosocial http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, syndromic, claes-jensen type, x-linked http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 1 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 100 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 101 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 102 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 103 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 104 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 105 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 106 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 12 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 18 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 19 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 61 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 93 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 96 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +mental retardation, x-linked 99 http://www.ebi.ac.uk/efo/EFO_0003847 mental retardation +metachromatic leukodystrophy, mild http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +metachromatic leukodystrophy, severe http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +metaphyseal dysplasia without hypotrichosis http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia +methylcrotonyl-coa carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +methylmalonic acidemia http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +methylmalonic acidemia with homocystinuria http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +methylmalonic acidemia with homocystinuria cblc http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC +methylmalonic aciduria and homocystinuria, cblc type, digenic http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC +methylmalonyl-coa epimerase deficiency http://www.orpha.net/ORDO/Orphanet_308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +microcephalic osteodysplastic primordial dwarfism http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +microcephalic osteodysplastic primordial dwarfism type 2 http://www.orpha.net/ORDO/Orphanet_2637 Microcephalic osteodysplastic primordial dwarfism type II +microcephaly 24, primary, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +migraine, familial hemiplegic, 1 http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine +migraine, familial hemiplegic, 2 http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine +migraine, sporadic hemiplegic, with progressive cerebellar ataxia http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine +mitochondrial complex 1 deficiency, mitochondrial type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 10 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 11 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 12 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 13 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 14 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 15 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 16 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 17 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 18 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 19 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 2 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 21 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 22 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 23 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 24 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 25 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 26 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 27 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 28 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 29 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 3 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 30 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 31 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 32 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 33 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 35 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 4 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 6 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 7 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 8 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 1 deficiency, nuclear type 9 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 3 deficiency, nuclear type 10 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 4 deficiency, nuclear type 16 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 4 deficiency, nuclear type 19 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex 4 deficiency, nuclear type 21 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex i deficiency http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex i deficiency, mitochondrial type 2 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex i deficiency, mitochondrial type 3 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +mitochondrial complex iv deficiency http://www.ebi.ac.uk/efo/EFO_0009135 leigh syndrome due to mitochondrial complex iv deficiency +mitochondrial trifunctional protein deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +molybdenum cofactor deficiency, complementation group a http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +molybdenum cofactor deficiency, complementation group b http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +molybdenum cofactor deficiency, complementation group c http://www.orpha.net/ORDO/Orphanet_833 Encephalopathy due to sulfite oxidase deficiency +mucopolysaccharidosis type vi http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis +mucopolysaccharidosis type vii http://www.orpha.net/ORDO/Orphanet_584 Mucopolysaccharidosis type 7 +mucopolysaccharidosis, type ii, severe form http://www.orpha.net/ORDO/Orphanet_79213 Mucopolysaccharidosis +mucopolysaccharidosis, type vi, severe http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +multiple congenital anomalies-hypotonia-seizures syndrome 1 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 +multiple congenital anomalies-hypotonia-seizures syndrome 3 http://www.orpha.net/ORDO/Orphanet_300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 +multiple endocrine neoplasia, type 2b http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +multiple fibroadenomas of the breast http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma +muscular dystrophy, congenital, due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +muscular dystrophy, limb-girdle, type 2r http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +muscular dystrophy, limb-girdle, type 2y http://www.ebi.ac.uk/efo/EFO_0000310 limb-girdle muscular dystrophy +myasthenia, limb-girdle, familial http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 14 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 15 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 17 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 18 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 20, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 21, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 23, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 24, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 25, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 2a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 3a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 3b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 4a, slow-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 4b, fast-channel http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 7, presynaptic http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myasthenic syndrome, slow-channel congenital http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myd88 deficiency http://www.orpha.net/ORDO/Orphanet_183713 Bacterial susceptibility due to TLR signaling pathway deficiency +myh-associated polyposis http://www.orpha.net/ORDO/Orphanet_733 Familial adenomatous polyposis +myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +myoclonic encephalopathy http://www.ebi.ac.uk/efo/EFO_1001900 myoclonic epilepsy +myoclonic-atonic epilepsy http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy +myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +myofibrillar myopathy 1 http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +myofibrillar myopathy, zasp-related http://www.orpha.net/ORDO/Orphanet_98912 Late-onset distal myopathy, Markesbery-Griggs type +myofibromatosis, infantile, 1 http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +myofibromatosis, infantile, 2 http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis +myopathy, areflexia, respiratory distress, and dysphagia, early-onset http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 +myopathy, centronuclear http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +myopathy, centronuclear, 1 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +myopathy, centronuclear, 4 http://www.orpha.net/ORDO/Orphanet_595 Centronuclear myopathy +myopathy, distal, 1 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy, distal, 4 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy, distal, 5 http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy, tubular aggregate, 1 http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy +nager syndrome http://www.orpha.net/ORDO/Orphanet_245 Nager syndrome +nemaline myopathy http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 1 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 10 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 2, autosomal recessive http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 3 http://www.orpha.net/ORDO/Orphanet_607 Nemaline myopathy +nemaline myopathy 4 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 5 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 6 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 7 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 8 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nemaline myopathy 9 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +neoplasm of the breast http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm +neoplasm of the parathyroid gland http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +nephronophthisis 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 12 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 13 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 18 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 20 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 3 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 4 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 7 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 8 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis 9 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis-like nephropathy http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephronophthisis-like nephropathy 2 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis +nephrotic syndrome type 15 http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome +nephrotic syndrome, idiopathic, steroid-resistant http://www.orpha.net/ORDO/Orphanet_656 Genetic steroid-resistant nephrotic syndrome +nephrotic syndrome, type 20 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +nephrotic syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +neu-laxova syndrome 1 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome +neuroblastoma http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neuroblastoma 1 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neuroblastoma 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neuroblastoma 3 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma +neurofibromatosis, familial spinal http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +neuronal ceroid lipofuscinosis 1 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 10 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 5 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 6 http://www.orpha.net/ORDO/Orphanet_216 Neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 8 http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid-lipofuscinosis, recessive http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuropathy hereditary sensory and autonomic type 1 http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 +neuropathy, hereditary sensory and autonomic, type vi http://www.orpha.net/ORDO/Orphanet_314381 Hereditary sensory and autonomic neuropathy type 6 +neuropathy, hereditary sensory and autonomic, type viii http://www.orpha.net/ORDO/Orphanet_140477 Autosomal recessive hereditary sensory and autonomic neuropathy +neutral lipid storage disease with myopathy http://www.orpha.net/ORDO/Orphanet_98908 Neutral lipid storage myopathy +newfoundland rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +niemann-pick disease, type c http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +niemann-pick disease, type c2 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +night blindness, congenital stationary, type1i http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +non-syndromic male infertility due to sperm motility disorder http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +non-syndromic oligodontia http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +nonepidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +nonsyndromic deafness http://www.ebi.ac.uk/efo/EFO_0001063 deafness +noonan syndrome http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 1 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 10 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 11 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 12 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 13 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 3 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 4 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 5 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 7 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan syndrome 9 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +noonan-like syndrome http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +oligodontia http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +oligodontia-colorectal cancer syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome +omodysplasia 1 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia +omodysplasia 2 http://www.orpha.net/ORDO/Orphanet_2733 Omodysplasia +orotic aciduria http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria +oroticaciduria http://www.orpha.net/ORDO/Orphanet_30 Hereditary orotic aciduria +osler hemorrhagic telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_774 Hereditary hemorrhagic telangiectasia +osteogenesis imperfecta type 10 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta type 12 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta type 7 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta type 8 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta type 9 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type 18 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type 19 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type 20 http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type 21 http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type iic http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type iii/iv http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +osteogenesis imperfecta, type vi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xiii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xiv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xv http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xvi http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xvii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +osteogenesis imperfecta, type xviii http://www.orpha.net/ORDO/Orphanet_666 Osteogenesis imperfecta +pain insensitivity http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 +palmoplantar keratoderma, bothnian type http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +palmoplantar keratoderma, nonepidermolytic, focal http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +palmoplantar keratoderma, nonepidermolytic, focal 2 http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +parathyroid adenoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +parathyroid adenoma, somatic http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +parietal foramina 1 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parkinson disease http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 1 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 11 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 14 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 15 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 17 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 18 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease +parkinson disease 21 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease +parkinson disease 22, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 4 http://www.orpha.net/ORDO/Orphanet_411602 Hereditary late-onset Parkinson disease +parkinson disease 7 http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinson disease 8, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +parkinsonism http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +paroxysmal non-kinesigenic dyskinesia http://www.orpha.net/ORDO/Orphanet_98810 Paroxysmal non-kinesigenic dyskinesia +paroxysmal nonkinesigenic dyskinesia 1 http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia +partial congenital absence of teeth http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +pena-shokeir syndrome type i http://www.orpha.net/ORDO/Orphanet_994 Fetal akinesia deformation sequence +periventricular heterotopia http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia +periventricular nodular heterotopia 1 http://www.orpha.net/ORDO/Orphanet_98892 Periventricular nodular heterotopia +peroxisomal biogenesis disorder 3b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 10a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 10b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 11a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 12a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 13a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 1a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 2a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 2b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 3a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 3a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 4a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 5b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 6a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 6a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 7a http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 7a (zellweger) http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 7b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorder 8a http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +peroxisome biogenesis disorder 8b http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorders http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +peroxisome biogenesis disorders, zellweger syndrome spectrum http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +persistent hyperinsulinemic hypoglycemia of infancy http://www.orpha.net/ORDO/Orphanet_657 Congenital isolated hyperinsulinism +phosphoglycerate dehydrogenase deficiency http://www.orpha.net/ORDO/Orphanet_79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form +pili torti-deafness syndrome http://www.orpha.net/ORDO/Orphanet_123 Björnstad syndrome +pitt-hopkins-like syndrome 1 http://www.orpha.net/ORDO/Orphanet_221150 OBSOLETE: Pitt-Hopkins-like syndrome +polg-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +polg2-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +polydactyly, preaxial ii http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +popliteal pterygium syndrome lethal type http://www.orpha.net/ORDO/Orphanet_1234 Bartsocas-Papas syndrome +preaxial polydactyly http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +preaxial polydactyly 4 http://www.orpha.net/ORDO/Orphanet_294939 OBSOLETE: Preaxial polydactyly of fingers +preeclampsia/eclampsia 4 http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +preeclampsia/eclampsia 5 http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +premature ovarian failure 10 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 11 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 12 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 13 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 14 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 15 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 16 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 17 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 2a http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 2b http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 3 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 4 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 5 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 6 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 7 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 8 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 9 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary ciliary dyskinesia 23 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 24 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 25 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary familial hypertrophic cardiomyopathy http://www.orpha.net/ORDO/Orphanet_99739 Rare familial disorder with hypertrophic cardiomyopathy +primary familial polycythemia due to epo receptor mutation http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation +primary ovarian insufficiency http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary pulmonary hypertension 1 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +primary pulmonary hypertension 2 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +primary pulmonary hypertension 3 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +primary pulmonary hypertension 4 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +progressive familial heart block http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial heart block type 1a http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial heart block type 1b http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial heart block, type 1a http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive myoclonic epilepsy, x-linked http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +progressive myoclonus epilepsy with ataxia http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +prolonged qt interval http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval +propionicacidemia http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia +propionyl-coa carboxylase deficiency http://www.orpha.net/ORDO/Orphanet_35 Propionic acidemia +prostate cancer http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma +prostate cancer, hereditary, 12 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +prostate cancer, hereditary, 13 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +prostate cancer, hereditary, 2 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +prostate cancer, hereditary, 9 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +prostate cancer, somatic http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma +prostate cancer/brain cancer susceptibility http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +protoporphyria, erythropoietic, 2 http://purl.obolibrary.org/obo/MONDO_0060729 protoporphyria, erythropoietic, 2 +proximal muscle weakness http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +pseudoxanthoma elasticum, forme fruste http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum +psoriasis http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +psoriasis susceptibility 1 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +psoriasis susceptibility 13 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +psoriasis susceptibility 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +pten hamartoma tumor syndromes http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome +pulmonary arterial hypertension http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary hypertension, neonatal, susceptibility to http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pulmonary hypertension, primary, 2 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pulmonary hypertension, primary, 3 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +pulmonary hypertension, primary, 4 http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension +renal carnitine transport defect http://www.orpha.net/ORDO/Orphanet_158 Systemic primary carnitine deficiency +renal dysplasia and retinal aplasia http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia http://www.orpha.net/ORDO/Orphanet_140969 Saldino-Mainzer syndrome +renal tubular acidosis, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis +renal tubular acidosis, distal, autosomal dominant http://www.orpha.net/ORDO/Orphanet_18 Distal renal tubular acidosis +retinal cone dystrophy 3a http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +retinal cone dystrophy 3b http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal cone dystrophy 4 http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal dysplasia http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +retinal dystrophy and obesity http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinal dystrophy, early-onset severe http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +retinal dystrophy, early-onset severe, lrat-related http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +retinitis pigmentosa 1 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 10 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 12 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 13 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 14 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 15 http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +retinitis pigmentosa 17 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 18 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 19 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 2 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 20 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 23 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 25 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 26 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 27 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 28 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 3 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 30 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 31 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 33 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 35 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 36 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 37 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 38 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 4 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 40 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 41 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 42 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 43 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 44 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 45 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 46 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 47 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 48 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 49 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 50 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 51 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 53 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 54 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 55 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 56 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 57 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 58 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 59 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 6 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 60 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 61 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 62 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 64 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 65 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 66 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 67 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 68 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 69 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 7 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 70 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 72 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 73 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 74 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 75 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 76 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 77 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 78 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 79 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 81 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 82 with or without situs inversus http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +retinitis pigmentosa 83 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 84 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 85 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 86 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 87 with choroidal involvement http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 9 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa with or without situs inversus http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa, concentric http://www.orpha.net/ORDO/Orphanet_791 Retinitis pigmentosa +rhabdoid tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +rhabdoid tumor predisposition syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +right ventricular cardiomyopathy http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +ritscher-schinzel syndrome http://www.orpha.net/ORDO/Orphanet_7 3C syndrome +ritscher-schinzel syndrome 1 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome +ritscher-schinzel syndrome 2 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome +ritscher-schinzel syndrome 3 http://www.orpha.net/ORDO/Orphanet_7 3C syndrome +robinow sorauf syndrome http://www.orpha.net/ORDO/Orphanet_794 Saethre-Chotzen syndrome +robinow syndrome, autosomal recessive 2 http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +robinow syndrome, autosomal recessive, with brachy-syn-polydactyly http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +romano-ward syndrome http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +ryr1-related disorder http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders +schimke immunoosseous dysplasia http://www.orpha.net/ORDO/Orphanet_1830 Schimke immuno-osseous dysplasia +schwartz-jampel syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome +sclerosing cholangitis, neonatal http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +seizures http://purl.obolibrary.org/obo/HP_0001250 Seizure +seizures, benign familial infantile, 2 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +seizures, benign familial infantile, 5 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +seizures, benign familial infantile, 6 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +seizures, cortical blindness, and microcephaly syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +selective tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +semilobar holoprosencephaly http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +senior-loken syndrome 1 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 3 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 4 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 5 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 6 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 7 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 8 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +senior-loken syndrome 9 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +severe myoclonic epilepsy in infancy http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome +short rib polydactyly syndrome 5 http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +short rib-polydactyly syndrome, majewski type http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +short rib-polydactyly syndrome, verma-naumoff type http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +short stature due to growth hormone secretagogue receptor deficiency http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency +short stature with nonspecific skeletal abnormalities http://www.orpha.net/ORDO/Orphanet_40 Acromesomelic dysplasia, Maroteaux type +short-rib polydactyly syndrome type i http://www.orpha.net/ORDO/Orphanet_93270 Short rib-polydactyly syndrome, Saldino-Noonan type +short-rib polydactyly syndrome type iii http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +short-rib thoracic dysplasia 10 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +short-rib thoracic dysplasia 11 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +short-rib thoracic dysplasia 13 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome +short-rib thoracic dysplasia 15 with polydactyly http://www.orpha.net/ORDO/Orphanet_289 Ellis Van Creveld syndrome +short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +short-rib thoracic dysplasia 16 with or without polydactyly http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome +short-rib thoracic dysplasia 3 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93269 Short rib-polydactyly syndrome, Majewski type +short-rib thoracic dysplasia 7 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +short-rib thoracic dysplasia 8 with or without polydactyly http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +singleton-merten syndrome 2 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +solitary median maxillary central incisor syndrome http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +sotos syndrome http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +sotos syndrome 3 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome +spastic ataxia 5, autosomal recessive http://www.orpha.net/ORDO/Orphanet_316240 Autosomal recessive spastic ataxia +spastic ataxia charlevoix-saguenay type http://www.orpha.net/ORDO/Orphanet_98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay +spastic paraplegia 11, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 28, autosomal recessive http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 +spastic paraplegia 30, autosomal recessive http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 +spastic paraplegia 33, autosomal dominant http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia 4, autosomal dominant http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 +spastic paraplegia 45, autosomal recessive http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 +spastic paraplegia 47, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia 48, autosomal recessive http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 +spastic paraplegia 49, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia 50, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia 51, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 53, autosomal recessive http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 +spastic paraplegia 61, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 63, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 77, autosomal recessive http://www.orpha.net/ORDO/Orphanet_685 Hereditary spastic paraplegia +spastic paraplegia 78, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia 79, autosomal recessive http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia and psychomotor retardation with or without seizures http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +spermatogenic failure 10 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 18 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 19 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 20 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 27 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 3 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 39 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 40 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spermatogenic failure 41 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +sphingolipid activator protein 1 deficiency http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +spinal muscular atrophy, distal, autosomal recessive, 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 +spinal muscular atrophy, distal, autosomal recessive, 5 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 +spinocerebellar ataxia autosomal recessive with axonal neuropathy http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 +spinocerebellar ataxia, autosomal recessive 8 http://www.orpha.net/ORDO/Orphanet_88644 Autosomal recessive ataxia, Beauce type +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 http://www.orpha.net/ORDO/Orphanet_94124 Spinocerebellar ataxia with axonal neuropathy type 1 +spinocerebellar ataxia, dominant http://www.orpha.net/ORDO/Orphanet_99 Autosomal dominant cerebellar ataxia +stargardt disease 1 http://www.orpha.net/ORDO/Orphanet_827 Stargardt disease +stargardt disease 3 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +stargardt disease 4 http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +stargardt disease, recessive http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +steroid-resistant nephrotic syndrome http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome +t-cell immunodeficiency, congenital alopecia and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Alymphoid cystic thymic dysgenesis +telangiectasia, hereditary hemorrhagic, type 2 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +telangiectasia, hereditary hemorrhagic, type 5 http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +thoracic aortic aneurysm and aortic dissection http://www.orpha.net/ORDO/Orphanet_285014 Rare disease with thoracic aortic aneurysm and aortic dissection +thrombophilia due to activated protein c resistance http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +thrombophilia due to protein c deficiency, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +thrombophilia, hereditary, due to protein c deficiency, autosomal dominant http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency +thrombophilia, hereditary, due to protein c deficiency, autosomal recessive http://www.orpha.net/ORDO/Orphanet_745 Severe hereditary thrombophilia due to congenital protein C deficiency +thyroid dyshormonogenesis 1 http://www.orpha.net/ORDO/Orphanet_95716 Familial thyroid dyshormonogenesis +tooth agenesis http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, 4 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, 7 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, 8 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, 9 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +tooth agenesis, selective, x-linked, 1 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +transcolabamin ii deficiency http://www.orpha.net/ORDO/Orphanet_859 Transcobalamin deficiency +treacher collins syndrome http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +treacher collins syndrome 1 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +treacher collins syndrome 2 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +treacher collins syndrome 4 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +tumor susceptibility linked to germline bap1 mutations http://www.orpha.net/ORDO/Orphanet_289539 BAP1-related tumor predisposition syndrome +tyrosine kinase 2 deficiency http://www.orpha.net/ORDO/Orphanet_331226 Susceptibility to infection due to TYK2 deficiency +undetermined early-onset epileptic encephalopathy http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +unverricht-lundborg syndrome http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +usher syndrome type 1d http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 3b http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1f http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1g http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 1j http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 2c http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 2d http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 3b http://www.orpha.net/ORDO/Orphanet_886 Usher syndrome +usher syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome, type id/f, digenic http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy +vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome +vasculopathy, retinal, with cerebral leukodystrophy http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy +velocardiofacial syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome +ventral septal defect http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +ventricular tachycardia, catecholaminergic polymorphic, 6 http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +vitelliform macular dystrophy 1 http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy +weill-marchesani syndrome 2 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome +weill-marchesani syndrome 4 http://www.orpha.net/ORDO/Orphanet_3449 Weill-Marchesani syndrome +wfs1-related spectrum disorders http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +x-linked agammaglobulinemia http://www.orpha.net/ORDO/Orphanet_47 X-linked agammaglobulinemia +x-linked cone-rod dystrophy 3 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome http://www.ebi.ac.uk/efo/EFO_0001063 deafness +xeroderma pigmentosum group a http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +xeroderma pigmentosum, group e http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +xeroderma pigmentosum, group f http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +zellweger spectrum disorders http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +zellweger syndrome http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +zellweger syndrome 2 http://www.orpha.net/ORDO/Orphanet_912 Zellweger syndrome +zonular pulverulent cataract 3 http://www.orpha.net/ORDO/Orphanet_91492 Early-onset non-syndromic cataract diff --git a/tests/pipelines/resources/finished_curation_spreadsheet.csv b/tests/pipelines/resources/finished_curation_spreadsheet.csv new file mode 100644 index 00000000..6521de29 --- /dev/null +++ b/tests/pipelines/resources/finished_curation_spreadsheet.csv @@ -0,0 +1,5062 @@ +⟵ Populated automatically from “Mapping to use”,,,,Populated by the curator,,,Results from the mapping pipeline ⟶,,,,,,,,,,,,,, +URI of selected mapping,Label of selected mapping,Selected mapping exact?,Selected mapping in EFO?,Mapping to use,Status,Comment,ClinVar label,ClinVar Freq,Notes,Suggested previous mapping,Suggested exact mapping,Suggested replacement mapping,All mappings >>>,,,,,,,, +http://purl.obolibrary.org/obo/MONDO_0019005,nephronophthisis,TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT,DONE,,nephronophthisis,2,NT expansion,http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|NOT_SPECIFIED|previously-used|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0019005|nephronophthisis|GOOD|eva-clinvar|EFO_CURRENT,,,,,,,, +-,-,-,-,,SKIP,Test comment,gc1/gc2 polymorphism,1,NT expansion,,,,http://purl.obolibrary.org/obo/MONDO_0010739|Taqi polymorphism|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED,http://www.orpha.net/ORDO/Orphanet_118803|solute carrier family 25 member 22|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/MONDO_0009826|PA polymorphism of alpha-2-globulin|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED,"http://www.orpha.net/ORDO/Orphanet_122340|guanylate cyclase 2D, retinal|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED",,,,, +-,-,-,-,,,,inherited immunodeficiency diseases,2,,,http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED,,http://identifiers.org/medgen/C5197805|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED,http://identifiers.org/mesh/D000081207|Inherited Immunodeficiency Diseases|HIGH|clinvar-xrefs|NOT_CONTAINED,,,,,,, +http://purl.obolibrary.org/obo/MONDO_0013932,peroxisome biogenesis disorder 5A (Zellweger),TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,DONE,,peroxisome biogenesis disorder 5a (zellweger),2,,http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|cttv|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0013932|peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT,http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT,https://www.omim.org/entry/614866|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED,http://identifiers.org/medgen/C3553940|Peroxisome biogenesis disorder 5A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED,,, +http://purl.obolibrary.org/obo/MONDO_0015942,frontometaphyseal dysplasia,TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT,DONE,,frontometaphyseal dysplasia,2,,http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|NOT_SPECIFIED|previously-used|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0015942|frontometaphyseal dysplasia|GOOD|eva-clinvar|EFO_CURRENT,,,,,,,, +-,-,-,-,,,,chitotriosidase deficiency,1,,http://purl.obolibrary.org/obo/MONDO_0013586|Chitotriosidase deficiency|NOT_SPECIFIED|previously-used|EFO_OBSOLETE,,,,,,,,,,, +-,-,-,-,,,,"congenital muscular dystrophy, alpha-dystroglycan related",1,,,"http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED",,"http://identifiers.org/medgen/CN239202|Congenital Muscular Dystrophy, alpha-dystroglycan related|HIGH|clinvar-xrefs|NOT_CONTAINED",,,,,,,, +-,-,-,-,,,,"corneal dystrophy, recessive",1,,,"http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED",,"http://identifiers.org/medgen/CN239343|Corneal Dystrophy, Recessive|HIGH|clinvar-xrefs|NOT_CONTAINED",,,,,,,, +http://purl.obolibrary.org/obo/MONDO_0013948,peroxisome biogenesis disorder 10A (Zellweger),TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,DONE,,peroxisome biogenesis disorder 10a (zellweger),1,,,http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|eva-clinvar|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0013948|peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|EFO_CURRENT,http://www.orpha.net/ORDO/Orphanet_912|Zellweger syndrome|GOOD|clinvar-xrefs|EFO_CURRENT,http://identifiers.org/medgen/C3553999|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED,https://www.omim.org/entry/614882|Peroxisome biogenesis disorder 10A (Zellweger)|GOOD|clinvar-xrefs|NOT_CONTAINED,,,, +-,-,-,-,,,,severe myoclonic epilepsy in infancy,1,,http://www.orpha.net/ORDO/Orphanet_33069|Dravet syndrome|NOT_SPECIFIED|previously-used|EFO_OBSOLETE,,"http://purl.obolibrary.org/obo/MONDO_0014960|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|NOT_SPECIFIED|replacement|NOT_CONTAINED",http://www.ebi.ac.uk/efo/EFO_1001900|myoclonic epilepsy|2|Orphanet:33069|EFO_CURRENT,http://purl.obolibrary.org/obo/HP_0002123|Generalized myoclonic seizure|2|Orphanet:33069|EFO_CURRENT,"http://purl.obolibrary.org/obo/MONDO_0100079|developmental and epileptic encephalopathy, 6|2|Orphanet:33069|EFO_CURRENT",http://purl.obolibrary.org/obo/HP_0011170|Generalized myoclonic-atonic seizure|2|Orphanet:33069|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0100135|Dravet syndrome|2|Orphanet:33069|EFO_CURRENT,"http://purl.obolibrary.org/obo/MONDO_0014328|developmental and epileptic encephalopathy, 19|2|Orphanet:33069|NOT_CONTAINED","http://purl.obolibrary.org/obo/MONDO_0012812|developmental and epileptic encephalopathy, 4|2|Orphanet:33069|NOT_CONTAINED",http://purl.obolibrary.org/obo/MONDO_0100062|developmental and epileptic encephalopathy|3|Orphanet:33069|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0016022|early myoclonic encephalopathy|3|Orphanet:33069|EFO_CURRENT +-,-,-,-,,,,isolated nonsyndromic congenital heart disease,1,,,http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED,,http://identifiers.org/medgen/CN239319|Isolated Nonsyndromic Congenital Heart Disease|HIGH|clinvar-xrefs|NOT_CONTAINED,,,,,,,, +http://purl.obolibrary.org/obo/MONDO_0009482,hypogonadotropic hypogonadism 3 with or without anosmia,TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT,DONE,,hypogonadotropic hypogonadism 3 with or without anosmia,1,,,http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0009482|hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|EFO_CURRENT,http://identifiers.org/medgen/C3550478|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED,https://www.omim.org/entry/244200|Hypogonadotropic hypogonadism 3 with or without anosmia|GOOD|clinvar-xrefs|NOT_CONTAINED,,,,,, +-,-,-,-,,,,elfn1-related condition,1,,,,,http://purl.obolibrary.org/obo/MONDO_0045054|cancer-related condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0021074|precancerous condition|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT,http://purl.obolibrary.org/obo/HP_0025256|Ameliorated by heat|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/HP_0032522|Ameliorated by immunosuppresion|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED,http://www.orpha.net/ORDO/Orphanet_568065|EPHB4-related lymphatic-related hydrops fetalis|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://www.orpha.net/ORDO/Orphanet_471012|RAS related|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,,, +http://www.orpha.net/ORDO/Orphanet_167,Chédiak-Higashi syndrome,TRUE,TRUE,http://www.orpha.net/ORDO/Orphanet_167|Chédiak-Higashi syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT,DONE,,chédiak-higashi syndrome,1,,http://www.orpha.net/ORDO/Orphanet_167|Chédiak-Higashi syndrome|NOT_SPECIFIED|previously-used|EFO_CURRENT,,,,,,,,,,, +http://purl.obolibrary.org/obo/MONDO_0008774,2-aminoadipic 2-oxoadipic aciduria,TRUE,TRUE,http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT,DONE,,2-aminoadipic 2-oxoadipic aciduria,1,,http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|NOT_SPECIFIED|previously-used|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT,,http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|eva-clinvar|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0008774|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|EFO_CURRENT,https://www.omim.org/entry/204750|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED,http://identifiers.org/medgen/C1859817|2-aminoadipic 2-oxoadipic aciduria|GOOD|clinvar-xrefs|NOT_CONTAINED,,,,, +-,-,-,-,,,,tp63-related spectrum disorders,1,,,http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED,,http://identifiers.org/medgen/CN239305|TP63-Related Spectrum Disorders|HIGH|clinvar-xrefs|NOT_CONTAINED,,,,,,,, +-,-,-,-,,,,autosomal dominant kcnq1-related disease,1,,,,,http://purl.obolibrary.org/obo/MONDO_0018832|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT,http://purl.obolibrary.org/obo/MONDO_0000426|autosomal dominant disease|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|EFO_CURRENT,http://www.orpha.net/ORDO/Orphanet_482077|HTRA1-related autosomal dominant cerebral small vessel disease|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://www.orpha.net/ORDO/Orphanet_497757|MME-related autosomal dominant Charcot Marie Tooth disease type 2|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/HP_0000006|Autosomal dominant inheritance|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/HP_0003743|Genetic anticipation|MEDIUM|http://purl.obolibrary.org/obo/hp/hp-international.owl|NOT_CONTAINED,,, +-,-,-,-,,,,simvastatin response - toxicity,1,,,,,http://www.orpha.net/ORDO/Orphanet_240913|OBSOLETE: Simvastatin toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://www.orpha.net/ORDO/Orphanet_529831|Letrozole toxicity|MEDIUM|https://www.orphadata.com/data/ontologies/ordo/last_version/ORDO_en_4.3.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/MONDO_0027653|abacavir toxicity|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED,http://purl.obolibrary.org/obo/MONDO_0023176|formaldehyde poisoning|MEDIUM|http://purl.obolibrary.org/obo/mondo.owl|NOT_CONTAINED,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, +-,-,-,-,,,,,,,,,,,,,,,,,, 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tests/output_generation/resources/end2end/input.xml.gz rename to tests/pipelines/resources/input.xml.gz diff --git a/tests/output_generation/resources/end2end/manual_curation/latest_mappings.tsv b/tests/pipelines/resources/manual_curation/latest_mappings.tsv similarity index 100% rename from tests/output_generation/resources/end2end/manual_curation/latest_mappings.tsv rename to tests/pipelines/resources/manual_curation/latest_mappings.tsv diff --git a/tests/output_generation/test_pipeline.sh b/tests/pipelines/test_annotation_pipeline.sh similarity index 94% rename from tests/output_generation/test_pipeline.sh rename to tests/pipelines/test_annotation_pipeline.sh index f1fa8120..af93a7e7 100644 --- a/tests/output_generation/test_pipeline.sh +++ b/tests/pipelines/test_annotation_pipeline.sh @@ -6,7 +6,7 @@ export LC_COLLATE=C SCRIPT_DIR="$( cd "$( dirname "${BASH_SOURCE[0]}" )" >/dev/null 2>&1 && pwd )" export CODE_ROOT="$(dirname $(dirname "${SCRIPT_DIR}"))" -export BATCH_ROOT_BASE=${SCRIPT_DIR}/resources/end2end +export BATCH_ROOT_BASE=${SCRIPT_DIR}/resources CWD=${PWD} BATCH_ROOT=${BATCH_ROOT_BASE}/test_batch diff --git a/tests/pipelines/test_curation_pipelines.sh b/tests/pipelines/test_curation_pipelines.sh new file mode 100644 index 00000000..884ec5cf --- /dev/null +++ b/tests/pipelines/test_curation_pipelines.sh @@ -0,0 +1,33 @@ +#!/bin/bash + +set -Eeuo pipefail +export LC_COLLATE=C + +SCRIPT_DIR="$( cd "$( dirname "${BASH_SOURCE[0]}" )" >/dev/null 2>&1 && pwd )" +export CODE_ROOT="$(dirname $(dirname "${SCRIPT_DIR}"))" + +export BATCH_ROOT_BASE=${SCRIPT_DIR}/resources + +CWD=${PWD} +BATCH_ROOT=${BATCH_ROOT_BASE}/test_batch +mkdir -p ${BATCH_ROOT} +cd ${BATCH_ROOT} + +nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ + --curation_root ${BATCH_ROOT} \ + --clinvar ${BATCH_ROOT_BASE}/input.xml.gz \ + -resume + +diff ${BATCH_ROOT}/automated_trait_mappings.tsv ${BATCH_ROOT_BASE}/expected/automated_trait_mappings.tsv +diff ${BATCH_ROOT}/google_sheets_table.tsv ${BATCH_ROOT_BASE}/expected/google_sheets_table.tsv + +nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ + --curation_root ${BATCH_ROOT} \ + --input_csv ${BATCH_ROOT_BASE}/finished_curation_spreadsheet.csv \ + -resume + +diff ${BATCH_ROOT}/curator_comments.tsv ${BATCH_ROOT_BASE}/expected/curator_comments.tsv +diff ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv + +cd ${CWD} +rm -r ${BATCH_ROOT} From 22380893392c43bfd9810756396330b9633cc5da Mon Sep 17 00:00:00 2001 From: April Shen Date: Wed, 13 Dec 2023 16:15:53 +0000 Subject: [PATCH 05/10] fix getTargetOntology --- pipelines/utils.nf | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/pipelines/utils.nf b/pipelines/utils.nf index 169fa538..5d780ec0 100644 --- a/pipelines/utils.nf +++ b/pipelines/utils.nf @@ -3,7 +3,7 @@ */ process getTargetOntology { input: - path mappingsFile + val mappingsFile output: env ONTOLOGY, emit: targetOntology From 54a920240a5ec4cea8856eb35f2bc26789841755 Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 14 Dec 2023 10:58:41 +0000 Subject: [PATCH 06/10] fix tests --- .../expected/automated_trait_mappings.tsv | 1180 ++++++++--------- tests/pipelines/test_curation_pipelines.sh | 3 +- tests/trait_mapping/test_main.py | 1 + 3 files changed, 593 insertions(+), 591 deletions(-) diff --git a/tests/pipelines/resources/expected/automated_trait_mappings.tsv b/tests/pipelines/resources/expected/automated_trait_mappings.tsv index 957efa35..3d6ad4bd 100644 --- a/tests/pipelines/resources/expected/automated_trait_mappings.tsv +++ b/tests/pipelines/resources/expected/automated_trait_mappings.tsv @@ -1,638 +1,638 @@ #clinvar_trait_name uri label -ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina -ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency -schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy -mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 -spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder -blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome -autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia -parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease -premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis -hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis -cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa -deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia -coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome -familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever -cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome -autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 -hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever -ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type -normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy -large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age -gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes -preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia -steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 -steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy -corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy -acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia +3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis abnormality of neuronal migration http://purl.obolibrary.org/obo/HP_0002269 Abnormality of neuronal migration -pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome -hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 -hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 -ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma -lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency -glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency -premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency -autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder -neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 -macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation -cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system -familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis -parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina -hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency -hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia +acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome +acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 acute infantile liver failure due to synthesis defect of mtdna-encoded proteins http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins -farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis -mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency -multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 -aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency -mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 -paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder -cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract -progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 +acute myeloid leukemia http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia +adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome +adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy +adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy +aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome +aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 +alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation +alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome +alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome amelogenesis imperfecta, recessive http://www.ebi.ac.uk/efo/EFO_0021800 recessive amelogenesis imperfecta -polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb -polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome -dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy -prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency -cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract -cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract -familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy -obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency -nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis -inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy -brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome -noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome -exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy -juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency -charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O -charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O -cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy -very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency -breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 -idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy -lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum -pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum -familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia -familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets -autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J -dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome -hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 -usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder -charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome -ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome -bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease -neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 -bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 -usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A -retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis -history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder -short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency -primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea -cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy -congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease -baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome -migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 -generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy -prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer -intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency -t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy -factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency -fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome -epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy -dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder -congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis -visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment -generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia -global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay -congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation -cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis -malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer -malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer -congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome -charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E -charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E -deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia -long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval -skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age -glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III -autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss -charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 -troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome -mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A -multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency -congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 -congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I -weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive -weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis +amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 amyotrophic neuralgia http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy -autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis -cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation -autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome -myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure -myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure -tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy -pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome -wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome -bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 -retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum -septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia -hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria -leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis -megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy -familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 -hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 -treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome -glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism -frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 -autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome -non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy -monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus -familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia -autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity -intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability -multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations -fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C -usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 -autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B -immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 -hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 -hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 -breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome -hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia -isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm -retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome -hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma -hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome -galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease -charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H -congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome -pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome -glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 -borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome -autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency -megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital -immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 -tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia -ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia anauxetic dysplasia http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia -charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 -bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores -neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis -neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 -amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis -amyotrophic lateral sclerosis type 1 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis -amyotrophic lateral sclerosis type 1 http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis -perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome -developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy -digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome -exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 -exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas -cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia -combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia -immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease -3-methylcrotonyl-coa carboxylase 2 deficiency http://www.orpha.net/ORDO/Orphanet_6 3-methylcrotonyl-CoA carboxylase deficiency +anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) +ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy +aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection aortic valve disease 2 http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve -combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency -myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy -stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome -immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 -chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus -aicardi-goutieres syndrome 1 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy -retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy -progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect -cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation -ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders -46,xy sex reversal 1 http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis -herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome -developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 -developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome +aromatase deficiency http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency +arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma +arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy +arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 +arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 +aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria +asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 +asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type +ataxia-telangiectasia syndrome http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia +ataxia-telangiectasia syndrome http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia +ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect +autism spectrum disorder http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder +autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism +autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome +autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome +autosomal dominant distal renal tubular acidosis http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis autosomal dominant epilepsy with auditory features http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features -charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S +autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 +autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F +autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy +autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 +autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 +autosomal dominant nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +autosomal dominant slowed nerve conduction velocity http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity +autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type +autosomal recessive congenital ichthyosis 5 http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis autosomal recessive distal spinal muscular atrophy 1 http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 autosomal recessive distal spinal muscular atrophy 1 http://www.orpha.net/ORDO/Orphanet_98920 Spinal muscular atrophy with respiratory distress type 1 -alstrom syndrome http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome -tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 -peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder -colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -autosomal recessive ataxia, beauce type http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type -emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy -fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome -charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 -dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 -cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy -egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer -brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome -amyotrophic lateral sclerosis type 4 http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 -spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 -spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 -early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism -developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -arrhythmogenic right ventricular dysplasia 8 http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 -arrhythmogenic cardiomyopathy with woolly hair and keratoderma http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma -developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG -developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 -netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome -megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome -severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly -hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome -saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly -arrhythmogenic right ventricular dysplasia 13 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -ankrd1-related dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0021799 ankrd1-related dilated cardiomyopathy -erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia -congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency -congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency -cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria -cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC -cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC -compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy -compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type -spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia -cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract -cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract -cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract -acrocallosal syndrome http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome -oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome -oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome -spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 -familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome -nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy -fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -adrenoleukodystrophy http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy -developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 -joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 -inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease -developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 -ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis -episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 +autosomal recessive limb-girdle muscular dystrophy type 2b http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B +autosomal recessive limb-girdle muscular dystrophy type 2j http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J +autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q +autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y +autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 28 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive autosomal recessive nonsyndromic hearing loss 3 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -anemia, nonspherocytic hemolytic, due to g6pd deficiency http://www.ebi.ac.uk/efo/EFO_0004272 anemia (phenotype) -wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease -renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma -developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 -neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder -rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome -paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia -bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome -dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency -pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation -rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor -hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 -hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 -dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome -intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant -lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy -hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma -hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer -malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia -malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 -hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 +autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 77 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive +autosomal recessive nonsyndromic hearing loss 9 http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 +autosomal recessive omodysplasia http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia +autosomal recessive robinow syndrome http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome +baller-gerold syndrome http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome +bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome +bardet-biedl syndrome http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 10 http://www.ebi.ac.uk/efo/EFO_0009022 Bardet-Biedl syndrome 10 +bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bardet-biedl syndrome 2 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome +bartsocas-papas syndrome http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 +becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy beckwith-wiedemann syndrome http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome -dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease -heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant -heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia -oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 -melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome -hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome -aspartylglucosaminuria http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria -epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis -epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 -autoimmune interstitial lung disease-arthritis syndrome http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome -alport syndrome http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome -niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A -retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 -hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 -autism, susceptibility to, x-linked 3 http://www.ebi.ac.uk/efo/EFO_0003758 autism -early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency +blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome +bloom syndrome http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome +borjeson-forssman-lehmann syndrome http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome +breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm +breast-ovarian cancer, familial, susceptibility to, 1 http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 +breast-ovarian cancer, familial, susceptibility to, 1 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 +breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +breast-ovarian cancer, familial, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +brittle cornea syndrome 2 http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome +brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy +brugada syndrome http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome +capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome +carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma +carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma +cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy +cardiomyopathy, familial restrictive, 3 http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +cardiovascular phenotype http://purl.obolibrary.org/obo/HP_0001626 Abnormality of the cardiovascular system +carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency +cataract 15 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98985 Early-onset sutural cataract +cataract 15 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +cataract 18 http://www.orpha.net/ORDO/Orphanet_98992 Early-onset partial cataract +cataract 6 multiple types http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98993 Early-onset posterior polar cataract +cataract 6 multiple types http://www.orpha.net/ORDO/Orphanet_98994 Total early-onset cataract +catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +charcot-marie-tooth disease http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease +charcot-marie-tooth disease axonal type 2o http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O +charcot-marie-tooth disease axonal type 2o http://www.orpha.net/ORDO/Orphanet_284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O +charcot-marie-tooth disease axonal type 2s http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S +charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B +charcot-marie-tooth disease type 2 http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 +charcot-marie-tooth disease type 2e http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 2e http://www.orpha.net/ORDO/Orphanet_99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E +charcot-marie-tooth disease type 4 http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 +charcot-marie-tooth disease type 4b2 http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 +charcot-marie-tooth disease type 4h http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H +charge association http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome +chilblain lupus 1 http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus +chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis +chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis +chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia +chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis +cobalamin c disease http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_26 Methylmalonic acidemia with homocystinuria +cobalamin c disease http://www.orpha.net/ORDO/Orphanet_79282 Methylmalonic acidemia with homocystinuria, type cblC +coffin-siris syndrome 1 http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome +cog1 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation +cog7 congenital disorder of glycosylation http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation +cohen syndrome http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome collagen 6-related myopathy http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy -tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 -limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy -pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome -growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency -hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 -autosomal recessive nonsyndromic hearing loss 12 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome -parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma -dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction -hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 -atrial septal defect 5 http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect -retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder -emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy -mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency -mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I -familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease -x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 -menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease -cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome -sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C -hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 -adams-oliver syndrome 5 http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome -aortic aneurysm, familial thoracic 7 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome -autosomal dominant nonsyndromic hearing loss 1 http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 -seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure -progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood -familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis -zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency +colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +colorectal cancer, susceptibility to, 12 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis +combined immunodeficiency due to stim1 deficiency http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency +combined malonic and methylmalonic acidemia http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia +compton-north congenital myopathy http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy +compton-north congenital myopathy http://www.orpha.net/ORDO/Orphanet_210163 Congenital lethal myopathy, Compton-North type +cone-rod dystrophy 5 http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +congenital bilateral aplasia of vas deferens from cftr mutation http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation +congenital cerebellar hypoplasia http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis +congenital dyserythropoietic anemia, type i http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 +congenital dyserythropoietic anemia, type i http://www.orpha.net/ORDO/Orphanet_98869 Congenital dyserythropoietic anemia type I +congenital insensitivity to pain-hypohidrosis syndrome http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome +congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome +congenital muscular dystrophy due to integrin alpha-7 deficiency http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency +congenital muscular dystrophy due to integrin alpha-7 deficiency http://www.orpha.net/ORDO/Orphanet_34520 Congenital muscular dystrophy with integrin alpha-7 deficiency +congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 19 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +congenital myasthenic syndrome 5 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome congenital myasthenic syndrome 8 http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 congenital myasthenic syndrome 8 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci -herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis -herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 -hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 -hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 -aicardi-goutieres syndrome 7 http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 -singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia -hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 -hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 -intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 -neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 -phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency -hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency -pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome -dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome -hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism -stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease -hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation -hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 -landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy -actin accumulation myopathy http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 +congenital myopathy with internal nuclei and atypical cores http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores +corneal dystrophy, fuchs endothelial, 3 http://www.orpha.net/ORDO/Orphanet_98974 Fuchs endothelial corneal dystrophy +cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome cortical dysplasia-focal epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome -weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome -immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome +cowden syndrome 6 http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease +cranioectodermal dysplasia 1 http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia +craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia +cutis laxa, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa +cutis laxa, x-linked http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome +cystic fibrosis http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis +cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease +deficiency of ferroxidase http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia deficiency of malonyl-coa decarboxylase http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria -hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome -hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis -hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 -chorea-acanthocytosis http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis -chorea-acanthocytosis http://www.orpha.net/ORDO/Orphanet_2388 Choreoacanthocytosis -intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia -intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 -neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 -familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation -seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +deficiency of udpglucose-hexose-1-phosphate uridylyltransferase http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia +desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R +desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy +developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome +developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 developmental and epileptic encephalopathy, 11 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis -pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris -neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy -chuvash polycythemia http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia -chuvash polycythemia http://www.orpha.net/ORDO/Orphanet_238557 Chuvash erythrocytosis -von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease -x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy -nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome -early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy -primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia -lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart -rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome -retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa -hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy -usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia -dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J -primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia -severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +developmental and epileptic encephalopathy, 12 http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 +developmental and epileptic encephalopathy, 13 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy +developmental and epileptic encephalopathy, 25 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy developmental and epileptic encephalopathy, 27 http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome -intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant -transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency -immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 -immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis -autosomal dominant limb-girdle muscular dystrophy type 1f http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F -intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome -colorectal cancer, susceptibility to, 10 http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis -autosomal dominant nocturnal frontal lobe epilepsy http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy -dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy -brody myopathy http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy -familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia -autosomal dominant hypocalcemia 1 http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 -glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II -glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency -aicardi-goutieres syndrome 5 http://www.orpha.net/ORDO/Orphanet_51 Aicardi-Goutières syndrome -schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia -arrhythmogenic right ventricular dysplasia 10 http://www.orpha.net/ORDO/Orphanet_247 Arrhythmogenic right ventricular cardiomyopathy -congenital myasthenic syndrome 4a http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma -myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -carnitine palmitoyl transferase 1a deficiency http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency -primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy -diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia developmental and epileptic encephalopathy, 31 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -costello syndrome http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome -intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome -pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome -endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer -endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm +developmental and epileptic encephalopathy, 34 http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy +developmental and epileptic encephalopathy, 36 http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 +developmental and epileptic encephalopathy, 36 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG +developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +developmental and epileptic encephalopathy, 53 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy developmental and epileptic encephalopathy, 7 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia -enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome -gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy -gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy -arrhythmogenic right ventricular dysplasia 5 http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 +developmental and epileptic encephalopathy, 8 http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_163985 Hyperekplexia-epilepsy syndrome +developmental and epileptic encephalopathy, 8 http://www.orpha.net/ORDO/Orphanet_2076 X-linked intellectual disability-epilepsy syndrome +diamond-blackfan anemia 10 http://www.orpha.net/ORDO/Orphanet_124 Diamond-Blackfan anemia +dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome +digeorge syndrome http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1d http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +dilated cardiomyopathy 1dd http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1g http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1j http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1kk http://purl.obolibrary.org/obo/MONDO_0019150 familial isolated restrictive cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy 1r http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction +dilated cardiomyopathy 1w http://purl.obolibrary.org/obo/MONDO_0015470 familial isolated dilated cardiomyopathy +dilated cardiomyopathy, dominant http://www.ebi.ac.uk/efo/EFO_0009142 autosomal dominant dilated cardiomyopathy +dock2 deficiency http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency +duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy +ductal breast carcinoma http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma +dyrk1a-related intellectual disability syndrome http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome +dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 dyskeratosis congenita, autosomal recessive 5 http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 -pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 -polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 -polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 -fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria -hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 +dystonic disorder http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder +dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin +early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy +early myoclonic encephalopathy http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy +early-onset myopathy with fatal cardiomyopathy http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy +early-onset parkinson disease 20 http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism +ectopia lentis 2, isolated, autosomal recessive http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +ectopia lentis et pupillae http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis +eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome +egfr-related lung cancer http://www.ebi.ac.uk/efo/EFO_0022194 EGFR-related lung cancer +ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome +ehlers-danlos syndrome, type 4 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type +ellis-van creveld syndrome http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome +emery-dreifuss muscular dystrophy 4, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy +emery-dreifuss muscular dystrophy 5, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy +endometrial carcinoma http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer +endometrial carcinoma http://www.ebi.ac.uk/efo/EFO_0004230 endometrial neoplasm +enhanced s-cone syndrome http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome +epidermodysplasia verruciformis http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency -jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome -pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension -oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 -osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta -koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome -myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy -familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis -fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 -congenital myasthenic syndrome 10 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome -alagille syndrome due to a jag1 point mutation http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation -congenital myasthenic syndrome 11 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome -marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome -niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C -neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 -generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus -autosomal recessive limb-girdle muscular dystrophy type 2q http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q epidermolysis bullosa simplex 5b, with muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy epidermolysis bullosa simplex 5b, with muscular dystrophy http://www.orpha.net/ORDO/Orphanet_257 Epidermolysis bullosa simplex with muscular dystrophy -epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement epidermolysis bullosa simplex 5c, with pyloric atresia http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia epidermolysis bullosa simplex 5c, with pyloric atresia http://www.orpha.net/ORDO/Orphanet_158684 Epidermolysis bullosa simplex with pyloric atresia epidermolysis bullosa simplex with nail dystrophy http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex -teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome -bap1-related tumor predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome -autosomal recessive limb-girdle muscular dystrophy type 2y http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y -idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis -dyskeratosis congenita, autosomal dominant 2 http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 -pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency -joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 -rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy -cytochrome-c oxidase deficiency disease http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease -achromatopsia 2 http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia -cardiac arrhythmia, ankyrin-b-related http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -craniometaphyseal dysplasia, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0015465 craniometaphyseal dysplasia -tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis -developmental and epileptic encephalopathy, 24 http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy -cornelia de lange syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome -severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy -lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly -myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy -myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy -dicer1 syndrome http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome -fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +epidermolysis bullosa simplex, ogna type http://www.orpha.net/ORDO/Orphanet_79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement +epilepsy, familial adult myoclonic, 3 http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy +epilepsy, progressive myoclonic, 1b http://www.orpha.net/ORDO/Orphanet_308 Progressive myoclonic epilepsy type 1 +epileptic encephalopathy http://purl.obolibrary.org/obo/HP_0200134 Epileptic encephalopathy +episodic ataxia type 1 http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 +episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 +episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia +erythrocytosis, familial, 3 http://purl.obolibrary.org/obo/MONDO_0016599 autosomal dominant secondary polycythemia +exostoses, multiple, type 2 http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 +exostoses, multiple, type 2 http://www.orpha.net/ORDO/Orphanet_321 Multiple osteochondromas +exudative vitreoretinopathy 1 http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy +factor v deficiency http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency +familial adenomatous polyposis 1 http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 familial cancer of breast http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma -microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II -catecholaminergic polymorphic ventricular tachycardia http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia +familial cold autoinflammatory syndrome 3 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation +familial dysautonomia http://www.orpha.net/ORDO/Orphanet_1764 Familial dysautonomia +familial focal epilepsy with variable foci http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci +familial hemophagocytic lymphohistiocytosis 2 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 3 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hemophagocytic lymphohistiocytosis 4 http://www.orpha.net/ORDO/Orphanet_540 Familial hemophagocytic lymphohistiocytosis +familial hypercholesterolemia http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia +familial hypocalciuric hypercalcemia http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia +familial infantile myasthenia http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +familial mediterranean fever http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever +familial multiple polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis +familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 +familial thoracic aortic aneurysm and aortic dissection http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection +familial thyroid dyshormonogenesis 1 http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis +familial x-linked hypophosphatemic vitamin d refractory rickets http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets +familial x-linked hypophosphatemic vitamin d refractory rickets http://www.orpha.net/ORDO/Orphanet_89936 X-linked hypophosphatemia fanconi anemia http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia -rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy -early infantile epileptic encephalopathy with suppression bursts http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia -ehlers-danlos syndrome, arthrochalasia type, 2 http://www.orpha.net/ORDO/Orphanet_1899 Arthrochalasia Ehlers-Danlos syndrome -intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 -retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 +fanconi anemia complementation group c http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C +fanconi anemia complementation group j http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J +fanconi anemia complementation group o http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia +farber lipogranulomatosis http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis +fetal akinesia deformation sequence 1 http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 +fg syndrome 1 http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome +fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal +fragile x syndrome http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome +frontotemporal dementia and/or amyotrophic lateral sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +fumarase deficiency http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria +galactosylceramide beta-galactosidase deficiency http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease +generalized epilepsy with febrile seizures plus, type 2 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized epilepsy with febrile seizures plus, type 7 http://www.orpha.net/ORDO/Orphanet_36387 Generalized epilepsy with febrile seizures-plus +generalized hypotonia http://purl.obolibrary.org/obo/HP_0001290 Generalized hypotonia +gestational diabetes mellitus uncontrolled http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes +glanzmann thrombasthenia 1 http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 +global developmental delay http://purl.obolibrary.org/obo/HP_0001263 Global developmental delay +glucocorticoid-remediable aldosteronism http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism +glutaric aciduria, type 1 http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency +glycogen storage disease type iii http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III +glycogen storage disease, type ii http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II +glycogen storage disease, type ii http://www.orpha.net/ORDO/Orphanet_365 Glycogen storage disease due to acid maltase deficiency +glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V +gne myopathy http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy +gne myopathy http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy +growth delay due to insulin-like growth factor type 1 deficiency http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency +hennekam lymphangiectasia-lymphedema syndrome 1 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome +hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 +hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome +hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome +hereditary cancer-predisposing syndrome http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome +hereditary diffuse gastric adenocarcinoma http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma +hereditary diffuse gastric adenocarcinoma http://www.orpha.net/ORDO/Orphanet_26106 Hereditary diffuse gastric cancer +hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia +hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia +hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 +hereditary nonpolyposis colorectal neoplasms http://www.ebi.ac.uk/efo/EFO_0009911 hereditary nonpolyposis colorectal carcinoma +hereditary sensory and autonomic neuropathy type 6 http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 +hereditary spastic paraplegia 11 http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 +hereditary spastic paraplegia 11 http://www.orpha.net/ORDO/Orphanet_2822 Autosomal recessive spastic paraplegia type 11 +hereditary spastic paraplegia 28 http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 +hereditary spastic paraplegia 28 http://www.orpha.net/ORDO/Orphanet_101008 Autosomal recessive spastic paraplegia type 28 +hereditary spastic paraplegia 30 http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 +hereditary spastic paraplegia 30 http://www.orpha.net/ORDO/Orphanet_101010 Autosomal spastic paraplegia type 30 +hereditary spastic paraplegia 4 http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 +hereditary spastic paraplegia 4 http://www.orpha.net/ORDO/Orphanet_100985 Autosomal dominant spastic paraplegia type 4 +hereditary spastic paraplegia 45 http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 +hereditary spastic paraplegia 45 http://www.orpha.net/ORDO/Orphanet_320396 Autosomal recessive spastic paraplegia type 45 +hereditary spastic paraplegia 48 http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 +hereditary spastic paraplegia 48 http://www.orpha.net/ORDO/Orphanet_306511 Autosomal recessive spastic paraplegia type 48 +hereditary spastic paraplegia 49 http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 +hereditary spastic paraplegia 49 http://www.orpha.net/ORDO/Orphanet_320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation +hereditary spastic paraplegia 53 http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 +hereditary spastic paraplegia 53 http://www.orpha.net/ORDO/Orphanet_319199 Autosomal recessive spastic paraplegia type 53 +hereditary spastic paraplegia 77 http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 +hermansky-pudlak syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis +hermansky-pudlak syndrome 5 http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome +herpes simplex encephalitis, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 +herpes simplex encephalitis, susceptibility to, 3 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +herpes simplex encephalitis, susceptibility to, 4 http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 +herpes simplex encephalitis, susceptibility to, 4 http://www.orpha.net/ORDO/Orphanet_1930 Herpes simplex virus encephalitis +heterotopia, periventricular, x-linked dominant http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant +heterotopia, periventricular, x-linked dominant http://www.orpha.net/ORDO/Orphanet_82004 Ehlers-Danlos syndrome with periventricular heterotopia +history of neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0021798 history of neurodevelopmental disorder +holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 +holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly +hyperaldosteronism, familial, type iv http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism +hyperammonemic encephalopathy due to carbonic anhydrase va deficiency http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency +hypercholesterolemia, autosomal dominant, 3 http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 +hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 +hyperekplexia 3 http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia +hyperglycinuria http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria +hyperimmunoglobulin d with periodic fever http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever +hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency +hyperornithinemia-hyperammonemia-homocitrullinuria syndrome http://www.orpha.net/ORDO/Orphanet_415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +hyperphosphatasia with intellectual disability syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome +hypertrophic cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 1 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 11 http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 +hypertrophic cardiomyopathy 18 http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy +hypertrophic cardiomyopathy 2 http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 +hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 +hypoalphalipoproteinemia, primary, 1 http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 +hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis +hypokalemic periodic paralysis, type 1 http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 +hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis +idiopathic generalized epilepsy http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy +idiopathic pulmonary fibrosis http://www.ebi.ac.uk/efo/EFO_0000768 idiopathic pulmonary fibrosis +immunodeficiency http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease +immunodeficiency 19 http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity +immunodeficiency 23 http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 +immunodeficiency 35 http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 +immunodeficiency 51 http://purl.obolibrary.org/obo/MONDO_0013500 immunodeficiency 51 +immunodeficiency 51 http://www.orpha.net/ORDO/Orphanet_1334 Chronic mucocutaneous candidiasis +immunodeficiency 76 http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 +inborn genetic diseases http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder +inclusion body myopathy, recessive http://www.orpha.net/ORDO/Orphanet_602 GNE myopathy infantile myofibromatosis http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis -malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer -xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum -duchenne muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy -becker muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy -dystrophin deficiency http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin infantile-onset ascending hereditary spastic paralysis http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis -bardet-biedl syndrome 14 http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome -malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm -squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma -squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma -carcinoma of esophagus http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma -primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease +inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis +inflammatory skin and bowel disease, neonatal, 1 http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease +intellectual developmental disorder, autosomal dominant 64 http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 +intellectual disability http://purl.obolibrary.org/obo/HP_0001249 Intellectual disability +intellectual disability, autosomal dominant 1 http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome +intellectual disability, autosomal dominant 20 http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome +intellectual disability, autosomal dominant 5 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 6 http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant +intellectual disability, autosomal dominant 9 http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 +intellectual disability, autosomal recessive 42 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability +intestinal hypomagnesemia 1 http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 +intestinal hypomagnesemia 1 http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia +isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma +isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis +isolated thoracic aortic aneurysm http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm +jeune thoracic dystrophy http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome joubert syndrome http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +joubert syndrome 38 http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 +joubert syndrome 8 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome +juvenile polyposis http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +juvenile polyposis syndrome http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome +kleefstra syndrome 2 http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 +koolen-de vries syndrome http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome +lafora disease http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease +lama2-related muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0100228 LAMA2-related muscular dystrophy +lamb-shaffer syndrome http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency +landau-kleffner syndrome http://www.orpha.net/ORDO/Orphanet_1945 Rolandic epilepsy +large for gestational age http://purl.obolibrary.org/obo/HP_0001520 Large for gestational age +larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome +leber congenital amaurosis 14 http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis +lethal congenital glycogen storage disease of heart http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart +limb-girdle muscular dystrophy, recessive http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy +lissencephaly, recessive http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly +long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +long qt syndrome http://purl.obolibrary.org/obo/HP_0001657 Prolonged QT interval +long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome +luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome +lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +lynch syndrome 1 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +macrocephaly, dysmorphic facies, and psychomotor retardation http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation +malignant hyperthermia, susceptibility to, 5 http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 +malignant hyperthermia, susceptibility to, 5 http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia of anesthesia +malignant neoplasm of body of uterus http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm +malignant tumor of breast http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer +malignant tumor of prostate http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer +malignant tumor of prostate http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia +marfan syndrome http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome meckel syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome +meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome meckel-gruber syndrome http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome -hypokalemic periodic paralysis, type 2 http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis -mandibuloacral dysplasia http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia -mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C +megabladder, congenital http://www.ebi.ac.uk/efo/EFO_0010655 megabladder, congenital +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 http://www.orpha.net/ORDO/Orphanet_83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 +megf10-related myopathy http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy +melnick-needles syndrome http://www.orpha.net/ORDO/Orphanet_2484 Melnick-Needles syndrome +menkes kinky-hair syndrome http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease +metachromatic leukodystrophy http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy +metaphyseal chondrodysplasia, mckusick type http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia +methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +mhc class i deficiency http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency +mhc class i deficiency http://www.orpha.net/ORDO/Orphanet_34592 Immunodeficiency by defective expression of MHC class I +microcephalic osteodysplastic primordial dwarfism type ii http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II +microcephaly, normal intelligence and immunodeficiency http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome +microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome http://www.ebi.ac.uk/efo/EFO_0009647 epilepsy, hearing loss, and intellectual disability syndrome +migraine, familial hemiplegic, 3 http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 +mitochondrial complex i deficiency, nuclear type 1 http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency +monogenic diabetes http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus +mucopolysaccharidosis type 6 http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 +mucopolysaccharidosis type 7 http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 mucopolysaccharidosis, mps-iii-b http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B -breast and/or ovarian cancer http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome +mucopolysaccharidosis, mps-iii-c http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C +mucopolysaccharidosis, mps-iv-a http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A +multiple acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency multiple congenital anomalies-hypotonia-seizures syndrome 2 http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 -hypertrophic cardiomyopathy 4 http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 -severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy -isolated neonatal sclerosing cholangitis http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis -autosomal recessive nonsyndromic hearing loss 66 http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive -developmental and epileptic encephalopathy, 42 http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy -episodic ataxia type 2 http://www.orpha.net/ORDO/Orphanet_97 Familial paroxysmal ataxia -episodic ataxia type 2 http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 -joubert syndrome 25 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria -larsen syndrome http://www.orpha.net/ORDO/Orphanet_503 Larsen syndrome -uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma -hereditary insensitivity to pain with anhidrosis http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 -autoinflammatory syndrome http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome -hypercholesterolemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 -hyperinsulinemic hypoglycemia, familial, 1 http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 +multiple cutaneous and mucosal venous malformations http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations +multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 +multiple epiphyseal dysplasia type 4 http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 +myasthenic syndrome, congenital, 22 http://www.orpha.net/ORDO/Orphanet_590 Congenital myasthenic syndrome +myh7-related skeletal myopathy http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy +myh7-related skeletal myopathy http://www.orpha.net/ORDO/Orphanet_59135 Laing early-onset distal myopathy +myopathy http://www.ebi.ac.uk/efo/EFO_0004145 myopathy +myopathy with tubular aggregates http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy +myopathy, myofibrillar, 9, with early respiratory failure http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure +myopathy, myofibrillar, 9, with early respiratory failure http://www.orpha.net/ORDO/Orphanet_178464 Hereditary myopathy with early respiratory failure +nance-horan syndrome http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome +nemaline myopathy 2 http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy +nephronophthisis 15 http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome +nephronophthisis-like nephropathy 1 http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis nephrotic syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome -hereditary diffuse leukoencephalopathy with spheroids http://www.orpha.net/ORDO/Orphanet_313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia -short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome -desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_363543 Autosomal recessive limb-girdle muscular dystrophy type 2R -desmin-related myofibrillar myopathy http://www.orpha.net/ORDO/Orphanet_98909 Desminopathy -desmin-related myofibrillar myopathy http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 -asphyxiating thoracic dystrophy 3 http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 -asphyxiating thoracic dystrophy 3 http://www.orpha.net/ORDO/Orphanet_93271 Short rib-polydactyly syndrome, Verma-Naumoff type -neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +netherton syndrome http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome +neu-laxova syndrome 2 http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome neuroblastoma, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome neuroblastoma, susceptibility to, 2 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma -colorectal cancer, hereditary nonpolyposis, type 2 http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome +neuroblastoma, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_2151 Hirschsprung disease-ganglioneuroblastoma syndrome +neuroblastoma, susceptibility to, 3 http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 +neurodegeneration with brain iron accumulation 5 http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 +neurodevelopmental disorder http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder +neurofibromatosis, type 1 http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 +neuronal ceroid lipofuscinosis http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis +neuronal ceroid lipofuscinosis 3 http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 +neuronal ceroid lipofuscinosis 3 http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease +neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 +neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease +neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 +neuronopathy, distal hereditary motor, type 7b http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 +neuropathy, hereditary sensory and autonomic, type 2a http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neuropathy, hereditary sensory, type 2c http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 +neutral lipid storage myopathy http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy +niemann-pick disease, type a http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A +niemann-pick disease, type c1 http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C +non-ketotic hyperglycinemia http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy +noonan syndrome 6 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome +normal pregnancy http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy +norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome +norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type +obesity due to congenital leptin deficiency http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency +oculofaciocardiodental syndrome http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 +oligodontia-cancer predisposition syndrome http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome +oligodontia-cancer predisposition syndrome http://www.orpha.net/ORDO/Orphanet_300576 Oligodontia-cancer predisposition syndrome +ornithine aminotransferase deficiency http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency +ornithine aminotransferase deficiency http://www.orpha.net/ORDO/Orphanet_414 Gyrate atrophy of choroid and retina +osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta +oto-palato-digital syndrome, type ii http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 paramyotonia congenita of von eulenburg http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg -adult-onset foveomacular vitelliform dystrophy http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy +parathyroid carcinoma http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma +parietal foramina 2 http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina +parkinson disease, late-onset http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease +paroxysmal extreme pain disorder http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder +paroxysmal nonkinesigenic dyskinesia http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia +peroxisome biogenesis disorder http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder +perry syndrome http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome +peutz-jeghers syndrome http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome +pgm1-cdg http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation +pharc syndrome http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome +pharc syndrome http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome +phgdh deficiency http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency +pierpont syndrome http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome pigmentary retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus -holoprosencephaly sequence http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly -breast-ovarian cancer, familial, susceptibility to, 2 http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -breast-ovarian cancer, familial, susceptibility to, 2 http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 -hereditary breast ovarian cancer syndrome http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and/or ovarian cancer syndrome -hereditary breast ovarian cancer syndrome http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome -holoprosencephaly 5 http://purl.obolibrary.org/obo/MONDO_0012322 holoprosencephaly 5 -3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome -congenital long qt syndrome http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome -lynch syndrome http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome -glycogen storage disease, type v http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V -spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +pineal hyperplasia and diabetes mellitus syndrome http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome +pitt-hopkins syndrome http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome +pituitary stalk interruption syndrome http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome +pityriasis rubra pilaris http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris +pol iii-related leukodystrophy http://www.orpha.net/ORDO/Orphanet_289494 4H leukodystrophy +polydactyly of a triphalangeal thumb http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb +polydactyly of a triphalangeal thumb http://www.orpha.net/ORDO/Orphanet_2950 Triphalangeal thumb-polysyndactyly syndrome +polyglandular autoimmune syndrome, type 1 http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 +polyglandular autoimmune syndrome, type 1 http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 +preeclampsia http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia +premature ovarian failure http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +premature ovarian failure 1 http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency +primary amenorrhea http://purl.obolibrary.org/obo/HP_0000786 Primary amenorrhea +primary ciliary dyskinesia http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 28 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary ciliary dyskinesia 30 http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia +primary dilated cardiomyopathy http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy +primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension +progressive familial heart block type ib http://www.orpha.net/ORDO/Orphanet_871 Familial progressive cardiac conduction defect +progressive familial intrahepatic cholestasis type 1 http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 +progressive microcephaly-seizures-cortical blindness-developmental delay syndrome http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +progressive pseudorheumatoid dysplasia http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood +prolidase deficiency http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency +propionic acidemia http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia +prostate cancer, hereditary, 1 http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer +protoporphyria, erythropoietic, 1 http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria +pseudoxanthoma elasticum http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum +pseudoxanthoma elasticum http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum +psoriasis 2 http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis +pten hamartoma tumor syndrome http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome +pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 +pulmonary hypertension, primary, 1 http://purl.obolibrary.org/obo/MONDO_0008347 idiopathic and/or familial pulmonary arterial hypertension +pyogenic bacterial infections due to myd88 deficiency http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency +rasopathy http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy +renal cell carcinoma http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma retinal degeneration http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration -eem syndrome http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome -isolated focal non-epidermolytic palmoplantar keratoderma http://www.orpha.net/ORDO/Orphanet_2337 Non-epidermolytic palmoplantar keratoderma -acromicric dysplasia http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia +retinal dystrophy http://www.orpha.net/ORDO/Orphanet_71862 Inherited retinal disorder +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_3421 Cerebroretinal vasculopathy +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_63261 HERNS syndrome +retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http://www.orpha.net/ORDO/Orphanet_71291 Hereditary vascular retinopathy +retinitis pigmentosa http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 11 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 39 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 7, digenic http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 80 http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa +retinitis pigmentosa 88 http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 retinitis pigmentosa-deafness syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome -charcot-marie-tooth disease dominant intermediate b http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B -breast neoplasm http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm -carcinoma http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma +retinoblastoma http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma +rett syndrome http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rett syndrome, congenital variant http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome +rhabdoid tumor predisposition syndrome 2 http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor +rod-cone dystrophy http://www.orpha.net/ORDO/Orphanet_1872 Cone rod dystrophy +rubinstein-taybi syndrome http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome +ryr1-related disorders http://www.ebi.ac.uk/efo/EFO_0009143 ryr1-related disorders +saldino-mainzer syndrome http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly +schimke immuno-osseous dysplasia http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia +schnyder crystalline corneal dystrophy http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy +schwartz-jampel syndrome http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome +seizure http://purl.obolibrary.org/obo/HP_0001250 Seizure +seizures, benign familial infantile, 3 http://www.orpha.net/ORDO/Orphanet_140927 Benign familial neonatal-infantile seizures +septo-optic dysplasia sequence http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia +septo-optic dysplasia sequence http://www.orpha.net/ORDO/Orphanet_3157 Septo-optic dysplasia spectrum +severe combined immunodeficiency due to dna-pkcs deficiency http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency +severe early-childhood-onset retinal dystrophy http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy +severe neonatal-onset encephalopathy with microcephaly http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly +severe x-linked myotubular myopathy http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy +short rib-polydactyly syndrome http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome +short stature http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency +singleton-merten syndrome 1 http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia +skeletal dysplasia, mild, with joint laxity and advanced bone age http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age sotos syndrome 1 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome -luscan-lumish syndrome http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome -familial temporal lobe epilepsy 7 http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 -norman-roberts syndrome http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome -norman-roberts syndrome http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type -hereditary hemorrhagic telangiectasia http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome -developmental and epileptic encephalopathy 94 http://www.ebi.ac.uk/efo/EFO_0020000 developmental and epileptic encephalopathy 94 -developmental and epileptic encephalopathy 94 http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy -ataxia-telangiectasia-like disorder http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder +spastic ataxia 2 http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 +spastic paraplegia http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia +spastic paraplegia-severe developmental delay-epilepsy syndrome http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome +spermatogenic failure 7 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 spondylometaphyseal dysplasia, kozlowski type http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type -neuronopathy, distal hereditary motor, type 2b http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 +squamous cell carcinoma of the head and neck http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma +squamous cell lung carcinoma http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma +stargardt disease http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease +steinert myotonic dystrophy syndrome http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 +steinert myotonic dystrophy syndrome http://www.orpha.net/ORDO/Orphanet_273 Steinert myotonic dystrophy +stormorken syndrome http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome +sulfite oxidase deficiency due to molybdenum cofactor deficiency type c http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy +t-cell immunodeficiency, congenital alopecia, and nail dystrophy http://www.orpha.net/ORDO/Orphanet_169095 Severe combined immunodeficiency due to FOXN1 deficiency +teebi hypertelorism syndrome 1 http://www.orpha.net/ORDO/Orphanet_1519 SPECC1L-related hypertelorism syndrome telangiectasia, hereditary hemorrhagic, type 1 http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease -inflammatory bowel disease 1 http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis -meckel syndrome, type 2 http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome -joubert syndrome 2 http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome -long chain 3-hydroxyacyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency -cardiac arrhythmia http://www.ebi.ac.uk/efo/EFO_0004269 cardiac arrhythmia +thrombophilia due to protein c deficiency, autosomal dominant http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency +tibial muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy toe walking http://purl.obolibrary.org/obo/HP_0030051 Tip-toe gait -primary pulmonary hypertension http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension -brugada syndrome 5 http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome -neuronal ceroid lipofuscinosis 7 http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease -neuronal ceroid lipofuscinosis 7 http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 -biotinidase deficiency http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency -capillary malformation-arteriovenous malformation syndrome http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome -multiple endocrine neoplasia, type 2 http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 -aortic aneurysm, familial thoracic 6 http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection -long qt syndrome 1 http://www.orpha.net/ORDO/Orphanet_101016 Romano-Ward syndrome -fibromuscular dysplasia, multifocal http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal -autosomal dominant nocturnal frontal lobe epilepsy 5 http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 -autosomal dominant nonsyndromic hearing loss 56 http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss +tooth agenesis, selective, 3 http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis +transcobalamin ii deficiency http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency +treacher collins syndrome 3 http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome +troyer syndrome http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome +tuberous sclerosis 1 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis 2 http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tuberous sclerosis syndrome http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis +tyrosinase-positive oculocutaneous albinism http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 +usher syndrome http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 1 http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 +usher syndrome type 1f http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome +usher syndrome type 2a http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A +uterine carcinosarcoma http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma +very long chain acyl-coa dehydrogenase deficiency http://purl.obolibrary.org/obo/MONDO_0008723 very long chain acyl-CoA dehydrogenase deficiency +visual impairment http://purl.obolibrary.org/obo/HP_0000505 Visual impairment +von hippel-lindau syndrome http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease +wagner syndrome http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease +weaver syndrome http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome +weill-marchesani 4 syndrome, recessive http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive +weill-marchesani 4 syndrome, recessive http://www.orpha.net/ORDO/Orphanet_363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome +wolcott-rallison dysplasia http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome +x-linked distal spinal muscular atrophy type 3 http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 +x-linked myopathy with postural muscle atrophy http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy +xeroderma pigmentosum http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum +zap70-related severe combined immunodeficiency http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency diff --git a/tests/pipelines/test_curation_pipelines.sh b/tests/pipelines/test_curation_pipelines.sh index 884ec5cf..df23a216 100644 --- a/tests/pipelines/test_curation_pipelines.sh +++ b/tests/pipelines/test_curation_pipelines.sh @@ -18,6 +18,7 @@ nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ --clinvar ${BATCH_ROOT_BASE}/input.xml.gz \ -resume +sort -o ${BATCH_ROOT}/automated_trait_mappings.tsv ${BATCH_ROOT}/automated_trait_mappings.tsv diff ${BATCH_ROOT}/automated_trait_mappings.tsv ${BATCH_ROOT_BASE}/expected/automated_trait_mappings.tsv diff ${BATCH_ROOT}/google_sheets_table.tsv ${BATCH_ROOT_BASE}/expected/google_sheets_table.tsv @@ -27,7 +28,7 @@ nextflow run ${CODE_ROOT}/pipelines/export_curation_spreadsheet.nf \ -resume diff ${BATCH_ROOT}/curator_comments.tsv ${BATCH_ROOT_BASE}/expected/curator_comments.tsv -diff ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv +diff -I '^#generated-date' ${BATCH_ROOT}/trait_names_to_ontology_mappings.tsv ${BATCH_ROOT_BASE}/expected/trait_names_to_ontology_mappings.tsv cd ${CWD} rm -r ${BATCH_ROOT} diff --git a/tests/trait_mapping/test_main.py b/tests/trait_mapping/test_main.py index 29537b3c..bd2201bd 100644 --- a/tests/trait_mapping/test_main.py +++ b/tests/trait_mapping/test_main.py @@ -55,6 +55,7 @@ def run_pipeline(resource_name): @pytest.mark.integration +@pytest.mark.skip('Redundant with new end-to-end tests, to be replaced with unit tests of trait_mapping.main') def test_main(): """Basic sanity test of output files, using a random sample of records.""" output_traits, output_mappings, output_curation = run_pipeline('sample.xml.gz') From f666246e635449d555fccec1e16443985ca5a4e0 Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 14 Dec 2023 13:09:28 +0000 Subject: [PATCH 07/10] update documentation and fix running on alternative ontologies --- README.md | 5 ++++- cmat/trait_mapping/main.py | 7 ++++--- pipelines/generate_curation_spreadsheet.nf | 4 ++++ 3 files changed, 12 insertions(+), 4 deletions(-) diff --git a/README.md b/README.md index 708ef14a..c785927c 100644 --- a/README.md +++ b/README.md @@ -38,6 +38,10 @@ export CODE_ROOT= export LATEST_MAPPINGS=${CODE_ROOT}/mappings/latest_mappings.tsv ``` +If this is your first time running the pipelines with a specific target ontology (i.e. you don't have a latest mappings file to use), +you can use an empty TSV file containing just the header `#ontology=`, where `` is taken from [this list](https://www.ebi.ac.uk/ols4/ontologies) of supportable ontologies. +This file will be filled with automated and manually curated mappings as processing continues. + To confirm everything is set up properly, you can run the annotation pipeline on the small dataset included with the tests. It should take a couple minutes to run and generate a file `annotated_clinvar.xml.gz` in the test directory. ```bash @@ -105,7 +109,6 @@ nextflow run ${CODE_ROOT}/pipelines/generate_curation_spreadsheet.nf \ --comments ${CURATOR_COMMENTS} \ -resume ``` -! TODO document use of other ontologies https://www.ebi.ac.uk/ols4/ontologies By default, the pipeline will download and map the latest ClinVar XML dump from [FTP](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/). If you want to run it on an existing XML file, you can pass it via the `--clinvar` flag. diff --git a/cmat/trait_mapping/main.py b/cmat/trait_mapping/main.py index e4f262bd..a06dab44 100644 --- a/cmat/trait_mapping/main.py +++ b/cmat/trait_mapping/main.py @@ -30,7 +30,7 @@ def get_uris_for_oxo(zooma_result_list: list) -> set: return uri_set -def process_trait(trait: Trait, filters: dict, zooma_host: str, oxo_target_list: list, oxo_distance: int) -> Trait: +def process_trait(trait: Trait, filters: dict, zooma_host: str, oxo_target_list: list, oxo_distance: int, target_ontology: str = 'EFO') -> Trait: """ Process a single trait. Find any mappings in Zooma. If there are no high confidence Zooma mappings that are in EFO then query OxO with any high confidence mappings not in EFO. @@ -42,11 +42,12 @@ def process_trait(trait: Trait, filters: dict, zooma_host: str, oxo_target_list: which ontologies should be queried using OxO. :param oxo_distance: int specifying the maximum number of steps to use to query OxO. i.e. OxO's "distance" parameter. + :param target_ontology: ID of target ontology (default EFO) :return: The original trait after querying Zooma and possibly OxO, with any results found. """ logger.debug('Processing trait {}'.format(trait.name)) - trait.zooma_result_list = get_zooma_results(trait.name, filters, zooma_host) + trait.zooma_result_list = get_zooma_results(trait.name, filters, zooma_host, target_ontology) trait.process_zooma_results() if (trait.is_finished or len(trait.zooma_result_list) == 0 @@ -116,7 +117,7 @@ def process_traits(traits_filepath, output_mappings_filepath, output_curation_fi processed_trait_list = [ trait_process_pool.apply( process_trait, - args=(trait, filters, zooma_host, oxo_target_list, oxo_distance) + args=(trait, filters, zooma_host, oxo_target_list, oxo_distance, ontology) ) for trait in trait_list ] diff --git a/pipelines/generate_curation_spreadsheet.nf b/pipelines/generate_curation_spreadsheet.nf index d64c5e3e..5e0e45a0 100644 --- a/pipelines/generate_curation_spreadsheet.nf +++ b/pipelines/generate_curation_spreadsheet.nf @@ -119,10 +119,14 @@ process processTraits { path "curation_traits_*.tsv", emit: traitsForCuration script: + // If targetOntology is anything but EFO, we set the query ontologies for Zooma and OxO to be the same, + // and do not use the data sources search option for Zooma. + def queryOntologyFlag = targetOntology.equalsIgnoreCase("EFO")? "" : "-n ${targetOntology.toLowerCase()} -t ${targetOntology.toLowerCase()} -r none" """ \${PYTHON_BIN} ${codeRoot}/bin/trait_mapping/process_traits.py \ -i ${traitChunk} \ --target-ontology ${targetOntology} \ + ${queryOntologyFlag} \ -o automated_traits_${traitChunk}.tsv \ -c curation_traits_${traitChunk}.tsv """ From efa07080fc8c34d22bc461d1270c4c4abfb09ea4 Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 14 Dec 2023 13:36:44 +0000 Subject: [PATCH 08/10] comment out E2E curation tests because they take ages --- .github/workflows/tests.yml | 5 +++-- 1 file changed, 3 insertions(+), 2 deletions(-) diff --git a/.github/workflows/tests.yml b/.github/workflows/tests.yml index f8f062c5..f8dc3c88 100644 --- a/.github/workflows/tests.yml +++ b/.github/workflows/tests.yml @@ -45,8 +45,9 @@ jobs: - name: End-to-end test of evidence string generation pipeline run: bash tests/pipelines/test_annotation_pipeline.sh - - name: End-to-end test of curation pipelines - run: bash tests/pipelines/test_curation_pipelines.sh +# TODO Takes too long to run regularly, maybe just on tags? +# - name: End-to-end test of curation pipelines +# run: bash tests/pipelines/test_curation_pipelines.sh - name: Upload the coverage data to Coveralls env: From f07a613cbb0d0e0b31aca8acd61f5e72124fe58c Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 14 Dec 2023 14:41:18 +0000 Subject: [PATCH 09/10] small fix for when comments are empty --- bin/trait_mapping/export_curation_table.py | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/bin/trait_mapping/export_curation_table.py b/bin/trait_mapping/export_curation_table.py index 20726ecf..702f7d7c 100644 --- a/bin/trait_mapping/export_curation_table.py +++ b/bin/trait_mapping/export_curation_table.py @@ -20,7 +20,7 @@ def export_table(input_filepath, done_filepath, import_filepath, comments_filepa # Comments column comment_rows = curation_table[curation_table['Comment'].notna() & curation_table['Status'].notna()] - comment_rows = comment_rows[['ClinVar label', 'Comment']] + comment_rows = comment_rows[['ClinVar label', 'Comment']].astype(str) # Remove double quotes as they just cause problems comment_rows['Comment'] = comment_rows['Comment'].str.replace('"', '') comment_rows.to_csv(comments_filepath, sep='\t', header=False, index=False) From d49c88791e218d1a84893aa3219b4897b189efaf Mon Sep 17 00:00:00 2001 From: April Shen Date: Thu, 14 Dec 2023 14:49:11 +0000 Subject: [PATCH 10/10] don't skip integration tests anymore --- tests/trait_mapping/test_main.py | 1 - 1 file changed, 1 deletion(-) diff --git a/tests/trait_mapping/test_main.py b/tests/trait_mapping/test_main.py index bd2201bd..29537b3c 100644 --- a/tests/trait_mapping/test_main.py +++ b/tests/trait_mapping/test_main.py @@ -55,7 +55,6 @@ def run_pipeline(resource_name): @pytest.mark.integration -@pytest.mark.skip('Redundant with new end-to-end tests, to be replaced with unit tests of trait_mapping.main') def test_main(): """Basic sanity test of output files, using a random sample of records.""" output_traits, output_mappings, output_curation = run_pipeline('sample.xml.gz')