Tubular Aggregate Myopathy 1
Disease ID: disease_node_18986
Connections displayed (default: 10).
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| Dbxref | GARD:3884, MIM:160565 |
|---|---|
| Subclassof | DOID_0050736, DOID_423 |
| Data Source | DOID |
| Doid Label | tubular aggregate myopathy 1 |
| Doid Description | A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18986 |
| Doid Id | DOID_0080089 |
| Label | Tubular Aggregate Myopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Diseases(ID:disease_node_5316) (Disease)