{"orpha":238755,"name":"OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: LGMD1H"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Progressive muscular dystrophy","url":"https://raremap.alftech.space/d/ORPHA-238755/","orphanet_url":"https://www.orpha.net/en/disease/detail/238755","names":{"fr":{"name":"OBSOLETE : Dystrophie musculaire des ceintures autosomique dominante type 1H","synonyms":["OBSOLETE : LGMD1H"]},"de":{"name":"OBSOLET: Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1H","synonyms":["OBSOLET: LGMD1H"]},"es":{"name":"OBSOLETO: Distrofia muscular de cinturas autosómica dominante tipo 1H","synonyms":["OBSOLETO: LGMD1H"]},"it":{"name":"OBSOLETO: Distrofia muscolare dei cingoli autosomica dominante tipo 1H","synonyms":["OBSOLETO: LGMD1H"]},"nl":{"name":"OBSOLEET: Autosomaal dominante limb-girdle-spierdystrofie type 1H","synonyms":["OBSOLEET: Autosomaal dominante bekken- en schoudergordel-spierdystrofie type 1H","OBSOLEET: Autosomaal dominante ledemaatgordel-spierdystrofie type 1H","OBSOLEET: LGMD1H"]},"pt":{"name":"OBSOLETO: Distrofia muscular das cinturas dos membros autossómica dominante tipo 1H"},"pl":{"name":"NIEAKTUALNE: Autosomalna dominująca dystrofia obręczowo-kończynowa typu 1H","synonyms":["NIEAKTUALNE: LGMD1H"]},"cs":{"name":"NEAKTUÁLNÍ: Autozomálně dominantní pletencová svalová dystrofie, typ 1H","synonyms":["NEAKTUÁLNÍ: LGMD1H"]},"uk":{"name":"ЗАСТАРІЛО: Аутосомно-домінантна кінцівково-поясна мязова дистрофія, тип 1H","synonyms":["ЗАСТАРІЛО: LGMD1H"]},"zh":{"name":"常染色体显性肢肌营养不良1H型","synonyms":["肢带肌营养不良1H型"],"definition":"一种罕见的常染色体显性遗传的四肢带肌营养不良亚型，特征为缓慢进行性近端肌无力，最初影响下肢（之后累及上肢），上下肢带肌营养不良，反射减退，腓肠肌肥大，血清肌酸激酶升高。无眼面延髓肌肉和心肌受累。"},"tr":{"name":"Otozomal dominant ekstremite-kuşak kas distrofisi tip 1H","synonyms":["LGMD1H"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":206644,"name":"Progressive muscular dystrophy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}