{"orpha":363543,"name":"Autosomal recessive limb-girdle muscular dystrophy type 2R","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency","LGMD2R"],"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-363543/","orphanet_url":"https://www.orpha.net/en/disease/detail/363543","names":{"fr":{"name":"Dystrophie musculaire des ceintures autosomique récessive type 2R","synonyms":["Dystrophie musculaire des ceintures autosomique récessive par déficit en desmine","LGMD2R"]},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomal-rezessive, durch Desmin-Mangel","synonyms":["Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2R","LGMD2R"]},"es":{"name":"Distrofia muscular de cinturas autosómica recesiva por deficiencia de desmina","synonyms":["Distrofia muscular de cinturas autosómica recesiva tipo 2R","LGMD2R"]},"it":{"name":"Distrofia muscolare dei cingoli, autosomica recessiva, da deficit di desmina","synonyms":["Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2R","LGMD2R"]},"nl":{"name":"Autosomaal recessieve limb-girdle-spierdystrofie type 2R","synonyms":["Autosomaal recessieve bekken- en schoudergordel-spierdystrofie type 2R","Autosomaal recessieve ledemaatgordel-spierdystrofie type 2R","Autosomaal recessieve limb-girdle-spierdystrofie door desminedeficiëntie","LGMD2R"]},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica recessiva tipo 2R","synonyms":["Distrofia muscular das cinturas dos membros autossómica recessiva por deficiência de desmina"]},"pl":{"name":"Autosomalna recesywna dystrofia obręczowo-kończynowa z powodu niedoboru desminy","synonyms":["Autosomalna recesywna dystrofia obręczowo-kończynowa typu 2R","LGMD2R"]},"cs":{"name":"Autozomálně recesivní pletencová svalová dystrofie, typ 2R","synonyms":["LGMD2R","Autozomálně recesivní pletencová svalová dystrofie způsobená deficitem desminu"]},"uk":{"name":"Автосомно-рецесивна мязова дистрофія скелетних мязів кінцівок, тип 2R","synonyms":["Аутосомно-рецесивна мязова дистрофія мязів пояса кінцівок, спричинена дефіцитом десміну","LGMD2R"]},"zh":{"name":"常染色体隐性肢带肌营养不良2R型","synonyms":["LGMD2R"]},"tr":{"name":"Otozomal resesif ekstremite-kuşak kas distrofisi tip 2R","synonyms":["Desmin eksikliğine bağlı otozomal çekinik ekstremite-kavşak tipi kas distrofisi","LGMD2R"]}},"xrefs":[],"associations":[{"type":"Moved to","orpha":98909,"name":"Desminopathy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}