Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C
Disease ID: disease_node_18906
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| Dbxref | ICD10CM:G71.0, MIM:253700, ORDO:353 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | DMDA1, LGMD2C, Maghrebian myopathy, SCARMD, autosomal recessive Duchenne-like muscular dystrophy type 1, deficiency of sarcoglycan gamma, gamma-sarcoglycanopathy, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, muscular dystrophy, limb-girdle, type 2C, severe childhood autosomal recessive muscular dystrophy North African type |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2C |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. |
| Disease Node Id | disease_node_18906 |
| Doid Id | DOID_0110277 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)