Centronuclear Myopathy 5
Disease ID: disease_node_18930
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| Dbxref | MIM:615959 |
|---|---|
| Subclassof | DOID_0111216 |
| Data Source | DOID |
| Synonyms | CNM5 |
| Doid Label | centronuclear myopathy 5 |
| Doid Description | An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. |
| Disease Node Id | disease_node_18930 |
| Doid Id | DOID_0111222 |
| Label | Centronuclear Myopathy 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Centronuclear Myopathy(ID:disease_node_18929) (Disease)