Isolated Mitochondrial Myopathy
Disease ID: disease_node_18037
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| Dbxref | MIM:616209, ORDO:457050 |
|---|---|
| Subclassof | DOID_0050736, DOID_699 |
| Data Source | DOID |
| Synonyms | Autosomal dominant mitochondrial myopathy with exercise intolerance |
| Doid Label | isolated mitochondrial myopathy |
| Doid Description | A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18037 |
| Doid Id | DOID_0081357 |
| Label | Isolated Mitochondrial Myopathy |
- Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Myopathies(ID:disease_node_9103) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)