Distal Myopathy With Rimmed Vacuoles
Disease ID: disease_node_18919
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| Dbxref | MIM:617158, ORDO:602 |
|---|---|
| Subclassof | DOID_0050736, DOID_11720 |
| Data Source | DOID |
| Doid Label | distal myopathy with rimmed vacuoles |
| Doid Description | A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18919 |
| Doid Id | DOID_0081363 |
| Label | Distal Myopathy With Rimmed Vacuoles |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)