{"id":"http://purl.bioontology.org/ontology/OMIM/208500","synonym":["ATD1","ASPHYXIATING THORACIC DYSTROPHY 1","JEUNE SYNDROME","THORACIC-PELVIC-PHALANGEAL DYSTROPHY","SRTD1"],"notation":"208500","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C4551856","C0265275"],"prefLabel":"SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY","label":[],"definition":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["ATD1","ASPHYXIATING THORACIC DYSTROPHY 1","JEUNE SYNDROME","THORACIC-PELVIC-PHALANGEAL DYSTROPHY","SRTD1"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["SRTD1","ATD1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Death in infancy secondary to pulmonary insufficiency [MISCELLANEOUS]","Survivors may develop renal insufficiency and hepatic dysfunction [MISCELLANEOUS]","Variable severity [MISCELLANEOUS]","Frequency 1/100,000 - 1/130,000 live births [MISCELLANEOUS]"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/OMIM/has_manifestation":["http://purl.bioontology.org/ontology/OMIM/MTHU014347","http://purl.bioontology.org/ontology/OMIM/MTHU014351","http://purl.bioontology.org/ontology/OMIM/MTHU014345","http://purl.bioontology.org/ontology/OMIM/MTHU014350","http://purl.bioontology.org/ontology/OMIM/MTHU014349","http://purl.bioontology.org/ontology/OMIM/MTHU014340","http://purl.bioontology.org/ontology/OMIM/MTHU000623","http://purl.bioontology.org/ontology/OMIM/MTHU009087","http://purl.bioontology.org/ontology/OMIM/MTHU014357","http://purl.bioontology.org/ontology/OMIM/MTHU004127","http://purl.bioontology.org/ontology/OMIM/MTHU014344","http://purl.bioontology.org/ontology/OMIM/MTHU014352","http://purl.bioontology.org/ontology/OMIM/MTHU000073","http://purl.bioontology.org/ontology/OMIM/MTHU014354","http://purl.bioontology.org/ontology/OMIM/MTHU005751","http://purl.bioontology.org/ontology/OMIM/MTHU037221","http://purl.bioontology.org/ontology/OMIM/MTHU037259","http://purl.bioontology.org/ontology/OMIM/MTHU014339","http://purl.bioontology.org/ontology/OMIM/MTHU014342","http://purl.bioontology.org/ontology/OMIM/MTHU002997","http://purl.bioontology.org/ontology/OMIM/MTHU014346","http://purl.bioontology.org/ontology/OMIM/MTHU014355","http://purl.bioontology.org/ontology/OMIM/MTHU024631","http://purl.bioontology.org/ontology/OMIM/MTHU004856","http://purl.bioontology.org/ontology/OMIM/MTHU005771","http://purl.bioontology.org/ontology/OMIM/MTHU014353","http://purl.bioontology.org/ontology/OMIM/MTHU000013","http://purl.bioontology.org/ontology/OMIM/MTHU011727","http://purl.bioontology.org/ontology/OMIM/MTHU014348","http://purl.bioontology.org/ontology/OMIM/MTHU014343","http://purl.bioontology.org/ontology/OMIM/MTHU007674","http://purl.bioontology.org/ontology/OMIM/MTHU001976","http://purl.bioontology.org/ontology/OMIM/MTHU000145","http://purl.bioontology.org/ontology/OMIM/MTHU011293","http://purl.bioontology.org/ontology/OMIM/MTHU014341"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047","T019"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["15q13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Mendelian phenotype or locus, molecular basis unknown."],"http://www.w3.org/2004/02/skos/core#notation":["208500"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T019"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C4551856","C0265275"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["5"],"http://www.w3.org/2004/02/skos/core#prefLabel":["SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["perc"]},"@id":"http://purl.bioontology.org/ontology/OMIM/208500","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F208500","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fcf92237cd8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-2d215bcb1279/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}