{"orpha":207094,"name":"Laminin subunit alpha 2-related muscular dystrophy","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["LAMA2-related muscular dystrophy","Qualitative or quantitative defects of merosin"],"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-207094/","orphanet_url":"https://www.orpha.net/en/disease/detail/207094","names":{"fr":{"name":"Dystrophie musculaire liée à la sous-unité alpha 2 de la laminine","synonyms":["Anomalie qualitative ou quantitative de la mérosine","Dystrophie musculaire associée à LAMA2"]},"de":{"name":"Laminin-Alpha-2-assoziierte Muskeldystrophie","synonyms":["LAMA2-assoziierte Muskeldystrophie"]},"es":{"name":"Distrofia muscular asociada a la subunidad alfa-2 de la laminina","synonyms":["Defectos cualitativos o cuantitativos de la merosina","Distrofia muscular asociada a LAMA2"]},"it":{"name":"Deficit qualitativi o quantitativi di merosina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van merosine"},"pt":{"name":"Distrofia muscular associada à subunidade alfa 2 da laminina"},"pl":{"name":"Defekty jakościowe lub ilościowe merozyny","synonyms":["LAMA2-related muscular dystrophy","Qualitative or quantitative defects of merosin"]},"cs":{"name":"Kvalitativní nebo kvantitativní defekty merosinu","synonyms":["LAMA2-related muscular dystrophy","Qualitative or quantitative defects of merosin"]},"uk":{"name":"Ламінінова субодиниця альфа-2, повязана з мязовою дистрофією","synonyms":["LAMA2-асоційована мязова дистрофія","Якісні або кількісні дефекти мерозину"]},"zh":{"name":"层粘连蛋白亚单位α2相关的肌营养不良症","synonyms":["定性或定量分层蛋白缺乏"]},"tr":{"name":"Laminin alt birimi alfa 2 -ilişkili kas distrofisi","synonyms":["LAMA2-ilişkili kas distrofisi","Merosinin kalitatif veya kantitatif defektleri"]}},"xrefs":[{"source":"MONDO","code":"16149","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":258,"name":"Laminin subunit alpha 2-related congenital muscular dystrophy","type":"Malformation syndrome"},{"orpha":565837,"name":"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}