{"orpha":662229,"name":"Episodic memory defect leukoencephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hippocampal memory defect leukoencephalopathy","White matter hyperintensities-episodic memory defect leukoencephalopathy"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662229/","orphanet_url":"https://www.orpha.net/en/disease/detail/662229","names":{"fr":{"name":"Leucoencéphalopathie à perte de mémoire épisodique"},"de":{"name":"Episodische Gedächtnisstörungen und Leukoenzephalopathie","synonyms":["Hippocampus-Gedächtnisstörung mit Leukoenzephalopathie","Leukoenzephalopathie mit Hyperintensitäten der weißen Substanz und episodischen Gedächtnisstörungen"]},"es":{"name":"Defecto de la memoria episódica-leucoencefalopatía","synonyms":["Hiperintensidades de la sustancia blanca-defecto de la memoria episódica-leucoencefalopatía","Leucoencefalopatía por defecto de la memoria del hipocampo"]},"it":{"name":"Leucoencefalopatia con deficit mnemonici occasionali","synonyms":["Leucoencefalopatia con deficit mnemonici ippocampali"]},"nl":{"name":"Leuko-encefalopathie met defect van episodisch geheugen","synonyms":["Leuko-encefalopathie met defect van hippocampaal geheugen","Leuko-encefalopathie met hyperintensiteit van witte stof - defect van episodisch geheugen"]},"pt":{"name":"Leucoencefalopatia com alterações episódicas da memória","synonyms":["Hiperintensidades da substância branca-leucoencefalopatia com alterações episódicas da memória","Leucoencefalopatia com defeitos da memória do hipocampo"]},"pl":{"name":"Leukoencefalopatia z zaburzeniami pamięci epizodycznej","synonyms":["Hippocampal memory defect leukoencephalopathy","White matter hyperintensities-episodic memory defect leukoencephalopathy"]},"cs":{"name":"Leukoencefalopatie s poruchou epizodické paměti","synonyms":["Hippocampal memory defect leukoencephalopathy","White matter hyperintensities-episodic memory defect leukoencephalopathy"]},"uk":{"name":"Епізодична лейкоенцефалопатія з дефектом памяті","synonyms":["Лейкоенцефалопатія з гіпокампальним дефектом памяті","Гіперінтенсивність білої речовини - лейкоенцефалопатія з епізодичним дефектом памяті"]}},"xrefs":[{"source":"OMIM","code":"621424","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0971077","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971077","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925071","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"LAMB1","name":"laminin subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37063705[PMID]","hgnc":"6486","ensembl":"ENSG00000091136","omim":"150240","loci":["7q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}