| Metadata | |
|---|---|
| ID | DOID:0050760 |
| Name | X-linked myopathy with excessive autophagy |
| Definition | 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. https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
XMEA [EXACT] |
| Parent Relationships |
is_a myopathy |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some X-linked recessive inheritance has symptom some muscle weakness |