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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:MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
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Accession:DOID:9008878 term browser browse the term
Definition:An autosomal dominant isolated mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. (OMIM)
Synonyms:exact_synonym: IMMD
 primary_id: OMIM:616209;   RDO:9001495
For additional species annotation, visit the Alliance of Genome Resources.


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MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: Myopathy, isolated mitochondrial, autosomal dominant OMIM
ClinVar
PMID:24934289 PMID:25741868 NCBI chr20:13,665,046...13,666,845
Ensembl chr20:13,665,031...13,667,333
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          Mitochondrial Cytopathy 91
            mitochondrial myopathy 91
              MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    mitochondrial myopathy 91
                      MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1
paths to the root