{"orpha":268823,"name":"Occipital encephalocele","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-268823/","orphanet_url":"https://www.orpha.net/en/disease/detail/268823","names":{"fr":{"name":"Encéphalocèle occipitale"},"de":{"name":"Enzephalozele, okzipitale"},"es":{"name":"Encefalocele occipital"},"it":{"name":"Encefalocele occipitale"},"nl":{"name":"Occipitale encefalocele"},"pt":{"name":"Encefalocelo occipital"},"pl":{"name":"Przepuklina mózgowa potyliczna"},"cs":{"name":"Okcipitální encefalokéla"},"uk":{"name":"Потилична енцефалоцеле"},"zh":{"name":"枕部脑膨出"},"tr":{"name":"Oksipital ensefalosel"}},"xrefs":[{"source":"ICD-10","code":"Q01.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1075031814"},{"source":"MONDO","code":"0017080","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014067","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199647,"name":"Isolated encephalocele","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DACT1","name":"dishevelled binding antagonist of beta catenin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22610794[PMID]","hgnc":"17748","ensembl":"ENSG00000165617","omim":"607861","loci":["14q23.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}