{"orpha":34517,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1E","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["LGMD1E"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy","url":"https://raremap.alftech.space/d/ORPHA-34517/","orphanet_url":"https://www.orpha.net/en/disease/detail/34517","names":{"fr":{"name":"Dystrophie musculaire des ceintures autosomique dominante type 1E","synonyms":["LGMD1E"]},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E","synonyms":["LGMD1E"]},"es":{"name":"Distrofia muscular de cinturas autosómica dominante tipo 1E","synonyms":["LGMD1E"]},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1E","synonyms":["LGMD1E"]},"nl":{"name":"Autosomaal dominante limb-girdle-spierdystrofie type 1E","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1E","Autosomaal dominante ledemaatgordel-spierdystrofie type 1E","LGMD1E"]},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica dominante tipo 1E"},"pl":{"name":"Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1E","synonyms":["LGMD1E"]},"cs":{"name":"Autozomálně dominantní pletencová svalová dystrofie, typ 1E","synonyms":["LGMD1E"]},"uk":{"name":"Аутосомно-домінантна кінцівково-поясна м’язова дистрофія, тип 1Е","synonyms":["LGMD1E"]},"zh":{"name":"常染色体显性肢带肌营养不良症1E型","synonyms":["LGMD1E"]},"tr":{"name":"Otozomal dominant ekstremite-kavşak tipi kas distrofisi tip 1E","synonyms":["LGMD1E"]}},"xrefs":[{"source":"UMLS","code":"C3148763","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":98909,"name":"Desminopathy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}