Distal Myopathy Tateyama Type
Disease ID: disease_node_18915
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| Dbxref | MIM:614321, ORDO:488650 |
|---|---|
| Subclassof | DOID_0050736, DOID_11720 |
| Data Source | DOID |
| Synonyms | distal muscular dystrophy Tateyama type |
| Doid Label | distal myopathy Tateyama type |
| Doid Description | A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18915 |
| Doid Id | DOID_0111191 |
| Label | Distal Myopathy Tateyama Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)