{"orpha":102014,"name":"Autosomal dominant limb-girdle muscular dystrophy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-102014/","orphanet_url":"https://www.orpha.net/en/disease/detail/102014","names":{"fr":{"name":"Dystrophie musculaire des ceintures autosomique dominante"},"de":{"name":"Gliedergürtelmuskeldystrophie, autosomale-dominante"},"es":{"name":"Distrofia muscular de cinturas autosómica dominante"},"it":{"name":"Distrofia muscolare dei cingoli, autosomica dominante"},"nl":{"name":"Autosomaal dominante limb-girdle-spierdystrofie","synonyms":["Autosomaal dominante bekken- en schoudergordel-spierdystrofie","Autosomaal dominante ledemaatgordel-spierdystrofie"]},"pt":{"name":"Distrofia muscular das cinturas dos membros autossómica dominante"},"pl":{"name":"Autosomalana dominująca dystrofia obręczowo-kończynowa"},"cs":{"name":"Autozomálně dominantní svalové dystrofie končetinového pletence"},"uk":{"name":"Аутосомно-домінантна мязова дистрофія кінцівок і поясів"},"zh":{"name":"常染色体显性遗传肢体带状肌营养不良"},"tr":{"name":"Otozomal dominant ekstremite-kuşak kas distrofisi"}},"xrefs":[{"source":"ICD-11","code":"8C70.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"537908479"},{"source":"MONDO","code":"0015151","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5675009","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":263,"name":"Limb-girdle muscular dystrophy","classifications":[156,181]}],"children":[{"orpha":565909,"name":"Calpain-3-related limb-girdle muscular dystrophy D4","type":"Disease"},{"orpha":34516,"name":"DNAJB6-related limb-girdle muscular dystrophy D1","type":"Disease"},{"orpha":55596,"name":"HNRNPDL-related limb-girdle muscular dystrophy D3","type":"Disease"},{"orpha":55595,"name":"TNP03-related limb-girdle muscular dystrophy D2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}