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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
 alt_id: RDO:9005180
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:30684668, PMID:31463572 NCBI chr 2:188,212,211...188,216,482
Ensembl chr 2:188,212,211...188,216,482
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mitochondrial metabolism disease 339
          Mitochondrial Cytopathy 89
            mitochondrial myopathy 89
              Mitochondrial Myopathy, and Ataxia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    mitochondrial myopathy 89
                      Mitochondrial Myopathy, and Ataxia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.