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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


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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 Cd99l2 CD99 molecule-like 2 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More...
G Gpr50 G protein-coupled receptor 50 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:149,368,900...149,373,486
Ensembl chr  X:149,368,900...149,373,486 		JBrowse link
G Hmgb3 high mobility group box 3 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860 		JBrowse link
G Mtmr1 myotubularin related protein 1 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy ClinVar PMID:9305655 PMID:10063835 PMID:10449925 PMID:15725586 PMID:20434914 More... NCBI chr18:215,031...248,541
Ensembl chr18:215,089...248,541 		JBrowse link
G Vma21 vacuolar ATPase assembly factor VMA21 ISO ClinVar Annotator: match by term: X-linked myopathy with excessive autophagy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9305655 PMID:9536098 PMID:10063835 PMID:10449925 PMID:15725586 More... NCBI chr  X:149,491,709...149,501,010
Ensembl chr  X:149,491,738...149,499,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            myopathy 1008
              X-linked myopathy with excessive autophagy 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    X-linked myopathy with excessive autophagy 6
paths to the root