Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B
Disease ID: disease_node_18907
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| Dbxref | ICD10CM:G71.0, MIM:253601, ORDO:268 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2B, LGMD3, limb-girdle muscular dystrophy due to dysferlin deficiency, limb-girdle muscular dystrophy type 3 |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2B |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. |
| Disease Node Id | disease_node_18907 |
| Doid Id | DOID_0110276 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)