{"orpha":726700,"name":"Chitayat syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ERF-related Chitayat syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726700/","orphanet_url":"https://www.orpha.net/en/disease/detail/726700","names":{"fr":{"name":"Syndrome de Chitayat","synonyms":["Syndrome de Chitayat associé à ERF"]},"de":{"name":"Chitayat-Syndrom","synonyms":["CHYTS"]},"es":{"name":"Síndrome de Chitayat","synonyms":["Síndrome de Chitayat asociado al gen ERF"]},"it":{"name":"Sindrome di Chitayat","synonyms":["Sindrome di Chitayat correlata a ERF"]},"nl":{"name":"Syndroom van Chitayat","synonyms":["ERF-gerelateerd syndroom van Chitayat"]},"pt":{"name":"Chitayat syndrome"},"pl":{"name":"Chitayat syndrome","synonyms":["ERF-related Chitayat syndrome"]},"cs":{"name":"Chitayat syndrome","synonyms":["ERF-related Chitayat syndrome"]}},"xrefs":[{"source":"OMIM","code":"617180","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ERF","name":"ETS2 repressor factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"8418638[PMID]_27738187[PMID]","hgnc":"3444","ensembl":"ENSG00000105722","omim":"611888","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"40840652[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"40840652[PMID]_ORPHANET"}],"phenotypes":null}