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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:Mitochondrial Myopathy, and Ataxia
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Accession:DOID:9007424 term browser browse the term
Synonyms:exact_synonym: MMYAT
 primary_id: OMIM:617675
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Myopathy, and Ataxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msto1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: MYOPATHY, MITOCHONDRIAL, AND ATAXIA ClinVar
OMIM
PMID:25741868 PMID:28544275 PMID:28554942 PMID:29339779 PMID:30684668 PMID:31463572 NCBI chr 2:188,212,211...188,216,482
Ensembl chr 2:188,212,211...188,216,482
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          Mitochondrial Cytopathy 89
            mitochondrial myopathy 89
              Mitochondrial Myopathy, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    mitochondrial myopathy 89
                      Mitochondrial Myopathy, and Ataxia 1
paths to the root