{"orpha":268973,"name":"Isolated focal cortical dysplasia type Ia","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FCD type Ia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-268973/","orphanet_url":"https://www.orpha.net/en/disease/detail/268973","names":{"fr":{"name":"Dysplasie corticale focale isolée type Ia","synonyms":["FCD type Ia"]},"de":{"name":"Kortikale Dysplasie, fokale isolierte, Typ Ia","synonyms":["FCD Typ Ia"]},"es":{"name":"Displasia cortical focal aislada tipo Ia","synonyms":["FCD tipo Ia"]},"it":{"name":"Displasia corticale focale isolata, tipo Ia","synonyms":["FCD, tipo Ia"]},"nl":{"name":"Geïsoleerde focale corticale dysplasie type Ia","synonyms":["FCD type Ia"]},"pt":{"name":"Displasia cortical focal isolada tipo Ia","synonyms":["FCD tipo Ia"]},"pl":{"name":"Izolowana dysplazja korowa mózgu typu Ia","synonyms":["FCD typu Ia"]},"cs":{"name":"Izolovaná fokální kortikální dysplázie, typ Ia","synonyms":["FCD typ Ia"]},"uk":{"name":"Ізольована фокальна кортикальна дисплазія, тип Ia","synonyms":["FCD тип Ia"]},"zh":{"name":"孤立性局灶性脑皮质发育不良Ia型","synonyms":["FCD Ia型"]},"tr":{"name":"İzole fokal kortikal displazi tip Ia","synonyms":["FCD tip Ia"]}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"666869001"},{"source":"MONDO","code":"0017096","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679767","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268961,"name":"Isolated focal cortical dysplasia type I","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SLC35A2","name":"solute carrier family 35 member A2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"29679388[PMID]","hgnc":"11022","ensembl":"ENSG00000102100","omim":"314375","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}