{"orpha":269008,"name":"Isolated focal cortical dysplasia type IIb","type":"Histopathological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FCD type IIb"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-269008/","orphanet_url":"https://www.orpha.net/en/disease/detail/269008","names":{"fr":{"name":"Dysplasie corticale focale isolée type IIb","synonyms":["FCD type IIb"]},"de":{"name":"Kortikale Dysplasie, fokale isolierte, Typ IIb","synonyms":["FCD Typ IIb"]},"es":{"name":"Displasia cortical focal aislada tipo IIb","synonyms":["FCD tipo IIb"]},"it":{"name":"Displasia corticale focale isolata, tipo IIb","synonyms":["FCD, tipo IIb"]},"nl":{"name":"Geïsoleerde focale corticale dysplasie type IIb","synonyms":["FCD type IIb"]},"pt":{"name":"Displasia cortical focal isolada tipo IIb","synonyms":["FCD tipo IIb"]},"pl":{"name":"Izolowana dysplazja korowa mózgu typu IIb","synonyms":["FCD typu IIb"]},"cs":{"name":"Izolovaná fokální kortikální dysplázie, typ IIb","synonyms":["FCD typ IIb"]},"uk":{"name":"Ізольована фокальна кортикальна дисплазія, тип IIb","synonyms":["FCD типу IIb"]},"zh":{"name":"孤立性局灶性脑皮质发育不良IIb型","synonyms":["FCD IIb型"]},"tr":{"name":"İzole fokal kortikal displazi tip IIb","synonyms":["FCD tip IIb"]}},"xrefs":[{"source":"OMIM","code":"607341","qualifier":"NTBT","icd_relation":null,"validated":true},{"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":"797175297"},{"source":"MONDO","code":"0017102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679768","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":268994,"name":"Isolated focal cortical dysplasia type II","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"MTOR","name":"mechanistic target of rapamycin kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"25799227[PMID]","hgnc":"3942","ensembl":"ENSG00000198793","omim":"601231","loci":["1p36.22"]},{"symbol":"TSC1","name":"TSC complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28215400[PMID]","hgnc":"12362","ensembl":"ENSG00000165699","omim":"605284","loci":["9q34.13"]},{"symbol":"TSC2","name":"TSC complex subunit 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"28215400[PMID]","hgnc":"12363","ensembl":"ENSG00000103197","omim":"191092","loci":["16p13.3"]}],"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}