Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A
Disease ID: disease_node_18908
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| Dbxref | GARD:3845, ICD10CM:G71.0, MIM:253600, ORDO:267 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2A, Leyden-Moebius muscular dystrophy, limb-girdle muscular dystrophy due to calpain deficiency, muscular dystrophy, limb-girdle, type 2A, pelvofemoral muscular dystrophy, primary calpainopathy |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2A |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. |
| Disease Node Id | disease_node_18908 |
| Doid Id | DOID_0110275 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)