Congenital Myopathy 16
Disease ID: disease_node_18963
Connections displayed (default: 10).
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| Dbxref | MIM:618524 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 16 |
| Doid Description | A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18963 |
| Doid Id | DOID_0081348 |
| Label | Congenital Myopathy 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)