Centronuclear Myopathy 1
Disease ID: disease_node_18928
Connections displayed (default: 10).
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| Dbxref | MIM:160150 |
|---|---|
| Subclassof | DOID_0111217 |
| Data Source | DOID |
| Synonyms | CNM1 |
| Doid Label | centronuclear myopathy 1 |
| Doid Description | An autosomal domit centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Disease Node Id | disease_node_18928 |
| Doid Id | DOID_0111223 |
| Label | Centronuclear Myopathy 1 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myopathies, Structural, Congenital(ID:disease_node_10806) (Disease)