{"id":"http://purl.bioontology.org/ontology/OMIM/164210","synonym":["GOLDENHAR SYNDROME","OCULOAURICULOVERTEBRAL SPECTRUM","HEMIFACIAL MICROSOMIA","CFM1","OCULOAURICULOVERTEBRAL DYSPLASIA","OAVS","FAV SEQUENCE","FACIOAURICULOVERTEBRAL SEQUENCE","HFM","OAV DYSPLASIA"],"notation":"164210","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0265240"],"prefLabel":"CRANIOFACIAL MICROSOMIA 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":["GOLDENHAR SYNDROME","OCULOAURICULOVERTEBRAL SPECTRUM","HEMIFACIAL MICROSOMIA","CFM1","OCULOAURICULOVERTEBRAL DYSPLASIA","OAVS","FAV SEQUENCE","FACIOAURICULOVERTEBRAL SEQUENCE","HFM","OAV DYSPLASIA"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["CFM","SF3B2","SF3B145","SAP145"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Lesions are most commonly unilateral [MISCELLANEOUS]","Caused by mutation in the splicing factor 3B, subunit-2 gene (SF3B2, 605591.0001) [MOLECULAR BASIS]","Inter- and intrafamilial phenotypic variability [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/MTHU011403","http://purl.bioontology.org/ontology/OMIM/MTHU010004","http://purl.bioontology.org/ontology/OMIM/MTHU012400","http://purl.bioontology.org/ontology/OMIM/MTHU036370","http://purl.bioontology.org/ontology/OMIM/MTHU074642","http://purl.bioontology.org/ontology/OMIM/MTHU074659","http://purl.bioontology.org/ontology/OMIM/MTHU074647","http://purl.bioontology.org/ontology/OMIM/MTHU074643","http://purl.bioontology.org/ontology/OMIM/MTHU015187","http://purl.bioontology.org/ontology/OMIM/MTHU074644","http://purl.bioontology.org/ontology/OMIM/MTHU074645","http://purl.bioontology.org/ontology/OMIM/MTHU016598","http://purl.bioontology.org/ontology/OMIM/MTHU074655","http://purl.bioontology.org/ontology/OMIM/MTHU006867","http://purl.bioontology.org/ontology/OMIM/MTHU036924","http://purl.bioontology.org/ontology/OMIM/MTHU074657","http://purl.bioontology.org/ontology/OMIM/MTHU059339","http://purl.bioontology.org/ontology/OMIM/MTHU000509","http://purl.bioontology.org/ontology/OMIM/MTHU074653","http://purl.bioontology.org/ontology/OMIM/MTHU074651","http://purl.bioontology.org/ontology/OMIM/MTHU000574","http://purl.bioontology.org/ontology/OMIM/MTHU074654","http://purl.bioontology.org/ontology/OMIM/MTHU074648","http://purl.bioontology.org/ontology/OMIM/MTHU074658","http://purl.bioontology.org/ontology/OMIM/MTHU074656","http://purl.bioontology.org/ontology/OMIM/MTHU074646","http://purl.bioontology.org/ontology/OMIM/MTHU074650","http://purl.bioontology.org/ontology/OMIM/MTHU074652","http://purl.bioontology.org/ontology/OMIM/MTHU074649","http://purl.bioontology.org/ontology/OMIM/MTHU036356","http://purl.bioontology.org/ontology/OMIM/MTHU006871"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["11q13.1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["164210"],"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":["C0265240"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["CRANIOFACIAL MICROSOMIA 1"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/164210","@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%2F164210","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F164210","@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:0x00007f76cfcfc090 /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":[]}}