{"orpha":720357,"name":"Otofaciocervical syndrome with thymic hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Fara-Chlupackova syndrome type 2","OFC syndrome type 2","OTFCS2","Otofaciocervical syndrome type 2","Otofaciocervical syndrome without hypoplasia of the thymus"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-720357/","orphanet_url":"https://www.orpha.net/en/disease/detail/720357","names":{"fr":{"name":"Syndrome oto-facio-cervical avec hypoplasie thymique","synonyms":["Syndrome de Fara-Chlupackova type 2","Syndrome oto-facio-cervical sans hypoplasie du thymus","Syndrome oto-facio-cervical type 2","OTFCS2","Syndrome OFC type 2"]},"de":{"name":"Oto-fazio-zervikales Syndrom mit Thymus-Hypoplasie","synonyms":["OTFCS2","OFC-Syndrom Typ 2","Fara-Chlupackova-Syndrom Typ 2","Oto-fazio-zervikales Syndrom Typ 2"]},"es":{"name":"Síndrome otofaciocervical con hipoplasia tímica","synonyms":["Síndrome OFC tipo 2","Síndrome de Fara-Chlupackova tipo 2","OTFCS2","Síndrome otofaciocervical tipo 2","Síndrome otofaciocervical con hipoplasia del timo"]},"it":{"name":"Sindrome oto-facio-cervicale con ipoplasia timica","synonyms":["Sindrome oto-facio-cervicale tipo 2","Sindrome oto-facio-cervicale senza ipoplasia del timo","OTFCS2","Sindrome OFC tipo 2","Sindrome di Fara-Chlupackova tipo 2"]},"nl":{"name":"Otofaciocervicaal syndroom met hypoplasie van thymus","synonyms":["OTFCS2","OFC syndroom type 2","Syndroom van Fara-Chlupackova type 2","Otofaciocervicaal syndroom type 2"]},"pt":{"name":"Otofaciocervical syndrome with thymic hypoplasia"},"pl":{"name":"Otofaciocervical syndrome with thymic hypoplasia","synonyms":["Fara-Chlupackova syndrome type 2","OFC syndrome type 2","OTFCS2","Otofaciocervical syndrome type 2","Otofaciocervical syndrome without hypoplasia of the thymus"]},"cs":{"name":"Otofaciocervical syndrome with thymic hypoplasia","synonyms":["Fara-Chlupackova syndrome type 2","OFC syndrome type 2","OTFCS2","Otofaciocervical syndrome type 2","Otofaciocervical syndrome without hypoplasia of the thymus"]}},"xrefs":[{"source":"OMIM","code":"615560","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]},{"orpha":331220,"name":"Syndome with combined immunodeficiency due to thymic defect","classifications":[156,195]},{"orpha":720280,"name":"T-B+NK+ severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[{"symbol":"PAX1","name":"paired box 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23851939[PMID]","hgnc":"8615","ensembl":"ENSG00000125813","omim":"167411","loci":["20p11.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}