Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E
Disease ID: disease_node_18904
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| Dbxref | ICD10CM:G71.0, MIM:604286, ORDO:119 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | Beta-sarcoglycanopathy, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, muscular dystrophy, limb-girdle, type 2E |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2E |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. |
| Disease Node Id | disease_node_18904 |
| Doid Id | DOID_0110279 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2E |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)