Tubular Aggregate Myopathy 2
Disease ID: disease_node_18973
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| Dbxref | MIM:615883 |
|---|---|
| Subclassof | DOID_0050736, DOID_423 |
| Data Source | DOID |
| Doid Label | tubular aggregate myopathy 2 |
| Doid Description | A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18973 |
| Doid Id | DOID_0080686 |
| Label | Tubular Aggregate Myopathy 2 |
- 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)