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ONTOLOGY REPORT - ANNOTATIONS


Term:X-linked myopathy with excessive autophagy
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Accession:DOID:0050760 term browser browse the term
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. (DO)
Synonyms:exact_synonym: MEAX;   XMEA
 primary_id: MESH:C564093
 alt_id: OMIM:310440;   RDO:0013167
 xref: GARD:3892
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X-linked myopathy with excessive autophagy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vma21 vacuolar ATPase assembly factor VMA21 JBrowse link 16 70,142,561 70,151,833 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      musculoskeletal system disease 5295
        muscular disease 1019
          muscle tissue disease 701
            myopathy 561
              X-linked myopathy with excessive autophagy 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        peripheral nervous system disease 2185
          neuropathy 2009
            neuromuscular disease 1581
              muscular disease 1019
                muscle tissue disease 701
                  myopathy 561
                    X-linked myopathy with excessive autophagy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.