{"orpha":265,"name":"Autosomal dominant limb-girdle muscular dystrophy type 1C","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["LGMD1C","Limb-girdle muscular dystrophy due to caveolin-3 deficiency"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Rippling muscle disease","url":"https://raremap.alftech.space/d/ORPHA-265/","orphanet_url":"https://www.orpha.net/en/disease/detail/265","names":{"fr":{"name":"Dystrophie musculaire des ceintures autosomique dominante type 1C","synonyms":["Dystrophie musculaire des ceintures par déficit en cavéoline-3","LGMD1C"]},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1C","synonyms":["Gliedergürtelmuskeldystrophie durch Calveolin-3 -Mangel","LGMD1C"]},"es":{"name":"Distrofia muscular de cinturas autosómica dominante tipo 1C","synonyms":["Distrofia muscular de cinturas por deficiencia de caveolina-3","LGMD1C"]},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante, tipo 1C","synonyms":["Distrofia muscolare dei cingoli da deficit di caveolina-3","LGMD1C"]},"nl":{"name":"Autosomaal dominante limb-girdle-spierdystrofie type 1C","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1C","Autosomaal dominante ledemaatgordel-spierdystrofie type 1C","LGMD1C","Limb-girdle-spierdystrofie door caveoline-3-deficiëntie"]},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica dominante tipo 1C","synonyms":["Distrofia muscular das cinturas dos membros por deficiência de caveolina-3"]},"pl":{"name":"Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1C","synonyms":["Dystrofia obręczowo-kończynowa z powodu niedoboru kaweoliny-3","LGMD1C"]},"cs":{"name":"Autozomálně dominantní pletencová svalová dystrofie, typ 1C","synonyms":["LGMD1C","Pletencová svalová dystrofie způsobená deficitem kaveolinu 3"]},"uk":{"name":"Аутосомно-домінантна мязова дистрофія скелетних мязів кінцівок, тип 1С","synonyms":["LGMD1C","Мязова дистрофія скелетних мязів кінцівок внаслідок дефіциту кавеоліну-3"]},"zh":{"name":"1C型常染色体显性遗传肢带肌营养不良","synonyms":["LGMD1C"]},"tr":{"name":"Otozomal dominant ekstremite kavşak tip kas distrofisi tip 1C","synonyms":["Kaveolin-3 eksikliğine bağlı ekstremite-kavşak tipi kas distrofisi","LGMD1C"]}},"xrefs":[{"source":"UMLS","code":"C1832567","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":97238,"name":"Rippling muscle disease"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}