X-Linked Myopathy With Excessive Autophagy
Disease ID: disease_node_18987
Connections displayed (default: 10).
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| Dbxref | GARD:3892, MIM:310440 |
|---|---|
| Subclassof | DOID_0080012, DOID_423 |
| Data Source | DOID |
| Synonyms | XMEA |
| Doid Label | X-linked myopathy with excessive autophagy |
| Doid Description | A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_18987 |
| Doid Id | DOID_0050760 |
| Label | X-Linked Myopathy With Excessive Autophagy |
- Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Diseases(ID:disease_node_5316) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)