{"orpha":720341,"name":"Otofaciocervical syndrome without thymic hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Fara-Chlupackova syndrome type 1","OFC syndrome type 1","OTFCS1","Otofaciocervical syndrome without hypoplasia of the thymus","Otofaciocervical syndrome type 1"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-720341/","orphanet_url":"https://www.orpha.net/en/disease/detail/720341","names":{"fr":{"name":"Syndrome oto-facio-cervical sans hypoplasie thymique","synonyms":["OTFCS1","Syndrome OFC type 1","Syndrome de Fara-Chlupackova type 1","Syndrome oto-facio-cervical sans hypoplasie du thymus","Syndrome oto-facio-cervical type 1"]},"de":{"name":"Oto-fazio-zervikales Syndrom ohne Thymus-Hypoplasie","synonyms":["Oto-fazio-zervikales Syndrom Typ 1","OTFCS1","OFC-Syndrom Typ 1","Fara-Chlupackova-Syndrom Typ 1"]},"es":{"name":"Síndrome otofaciocervical sin hipoplasia tímica","synonyms":["Síndrome de Fara-Chlupackova tipo 1","Síndrome OFC tipo 1","OTFCS1","Síndrome otofaciocervical sin hipoplasia del timo","Síndrome otofaciocervical tipo 1"]},"it":{"name":"Sindrome oto-facio-cervicale senza ipoplasia timica","synonyms":["Sindrome Fara-Chlupackova tipo 1","Sindrome otofacio-cervicale tipo 1","Sindrome oto-facio-cervicale senza ipoplasia del timo","OTFCS1","Sindrome OFC tipo 1","Sindrome di Fara-Chlupackova tipo 1"]},"nl":{"name":"Otofaciocervicaal syndroom zonder hypoplasie van thymus","synonyms":["OTFCS1","OFC syndroom type 1","Syndroom van Fara-Chlupackova type 1","Otofaciocervicaal syndroom type 1"]},"pt":{"name":"Otofaciocervical syndrome without thymic hypoplasia"},"pl":{"name":"Otofaciocervical syndrome without thymic hypoplasia","synonyms":["Fara-Chlupackova syndrome type 1","OFC syndrome type 1","OTFCS1","Otofaciocervical syndrome without hypoplasia of the thymus","Otofaciocervical syndrome type 1"]},"cs":{"name":"Otofaciocervical syndrome without thymic hypoplasia","synonyms":["Fara-Chlupackova syndrome type 1","OFC syndrome type 1","OTFCS1","Otofaciocervical syndrome without hypoplasia of the thymus","Otofaciocervical syndrome type 1"]}},"xrefs":[{"source":"OMIM","code":"166780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2792,"name":"Otofaciocervical syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"EYA1","name":"EYA transcriptional coactivator and phosphatase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16441263[PMID]","hgnc":"3519","ensembl":"ENSG00000104313","omim":"601653","loci":["8q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}