{"id":"http://purl.bioontology.org/ontology/OMIM/602483","synonym":["QUESTION MARK EARS SYNDROME","ARCND1"],"notation":"602483","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C4551996","C1865295"],"prefLabel":"AURICULOCONDYLAR SYNDROME 1","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":["QUESTION MARK EARS SYNDROME","ARCND1"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["GNAI3","ARCND1"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Intrafamilial variability [MISCELLANEOUS]","Caused by mutation in the guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 gene (GNAI3, 139370.0001) [MOLECULAR BASIS]","Prenatal onset [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/MTHU005407","http://purl.bioontology.org/ontology/OMIM/MTHU000511","http://purl.bioontology.org/ontology/OMIM/MTHU000231","http://purl.bioontology.org/ontology/OMIM/MTHU005405","http://purl.bioontology.org/ontology/OMIM/MTHU005411","http://purl.bioontology.org/ontology/OMIM/MTHU005389","http://purl.bioontology.org/ontology/OMIM/MTHU036377","http://purl.bioontology.org/ontology/OMIM/MTHU005403","http://purl.bioontology.org/ontology/OMIM/MTHU005412","http://purl.bioontology.org/ontology/OMIM/MTHU000576","http://purl.bioontology.org/ontology/OMIM/MTHU005392","http://purl.bioontology.org/ontology/OMIM/MTHU068340","http://purl.bioontology.org/ontology/OMIM/MTHU000316","http://purl.bioontology.org/ontology/OMIM/MTHU068341","http://purl.bioontology.org/ontology/OMIM/MTHU005406","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU002153","http://purl.bioontology.org/ontology/OMIM/MTHU036353","http://purl.bioontology.org/ontology/OMIM/MTHU005401","http://purl.bioontology.org/ontology/OMIM/MTHU001511","http://purl.bioontology.org/ontology/OMIM/MTHU005391","http://purl.bioontology.org/ontology/OMIM/MTHU000261","http://purl.bioontology.org/ontology/OMIM/MTHU036550","http://purl.bioontology.org/ontology/OMIM/MTHU005394","http://purl.bioontology.org/ontology/OMIM/MTHU005395","http://purl.bioontology.org/ontology/OMIM/MTHU005402","http://purl.bioontology.org/ontology/OMIM/MTHU005413","http://purl.bioontology.org/ontology/OMIM/MTHU005386","http://purl.bioontology.org/ontology/OMIM/MTHU042585","http://purl.bioontology.org/ontology/OMIM/MTHU005409","http://purl.bioontology.org/ontology/OMIM/MTHU005393","http://purl.bioontology.org/ontology/OMIM/MTHU072509","http://purl.bioontology.org/ontology/OMIM/MTHU068338","http://purl.bioontology.org/ontology/OMIM/MTHU001721","http://purl.bioontology.org/ontology/OMIM/MTHU005387","http://purl.bioontology.org/ontology/OMIM/MTHU005410","http://purl.bioontology.org/ontology/OMIM/MTHU038567","http://purl.bioontology.org/ontology/OMIM/MTHU005388","http://purl.bioontology.org/ontology/OMIM/MTHU068339","http://purl.bioontology.org/ontology/OMIM/MTHU005408"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["1p13"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["602483"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000018"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C4551996","C1865295"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["AURICULOCONDYLAR SYNDROME 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/602483","@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%2F602483","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F602483","@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:0x00007fbd5ffec6e8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/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":[]}}