OBO ID: DOID:0050760
Term Name: X-linked myopathy with excessive autophagy Search Ontology:
Synonyms:
  • XMEA
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/
References:
Ontology: Human Disease   ( DOID:0050760 )
Relationships
is a type of:
OTHER X-linked myopathy with excessive autophagy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VMA21 Myopathy, X-linked, with excessive autophagy 310440
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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