Centronuclear Myopathy 6 With Fiber-Type Disproportion
Disease ID: disease_node_18931
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| Dbxref | MIM:617760 |
|---|---|
| Subclassof | DOID_0111216 |
| Data Source | DOID |
| Synonyms | CNM6 |
| Doid Label | centronuclear myopathy 6 with fiber-type disproportion |
| Doid Description | An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. |
| Disease Node Id | disease_node_18931 |
| Doid Id | DOID_0111221 |
| Label | Centronuclear Myopathy 6 With Fiber-Type Disproportion |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Centronuclear Myopathy(ID:disease_node_18929) (Disease)