Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y
Disease ID: disease_node_18895
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| Dbxref | ICD10CM:G71.0, MIM:617072, ORDO:424261 |
|---|---|
| Subclassof | DOID_0110274 |
| Data Source | DOID |
| Synonyms | LGMD2Y, autosomal recessive muscular dystrophy due to LAP1B deficiency, autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystrophy, limb-girdle, type 2Y |
| Doid Label | autosomal recessive limb-girdle muscular dystrophy type 2Y |
| Doid Description | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. |
| Disease Node Id | disease_node_18895 |
| Doid Id | DOID_0110289 |
| Label | Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Limb-Girdle Muscular Dystrophy(ID:disease_node_18885) (Disease)