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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked myopathy with excessive autophagy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: Myopathy, X-linked, with excessive autophagy
ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy
ClinVar
OMIM
PMID:16217076 PMID:23315026 PMID:23850239 PMID:24488655 PMID:25683699 PMID:25741868 PMID:25809233 PMID:25817839 PMID:28492532 NCBI chr16:70,142,561...70,151,833
Ensembl chr16:70,142,761...70,242,979
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        muscular disease 1186
          muscle tissue disease 809
            myopathy 645
              X-linked myopathy with excessive autophagy 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  myopathy 645
                    X-linked myopathy with excessive autophagy 1
paths to the root