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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 Cardiomyopathy
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Accession:DOID:9000777 term browser browse the term
Definition:A group of diseases in which the dominant feature is the involvement of the cardiac muscle, associated with abnormal mitochondria function.
Synonyms:exact_synonym: Mitochondrial cardiomyopathies
 narrow_synonym: EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA



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Mitochondrial Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxn frataxin treatment ISO associated with Friedreich ataxia RGD PMID:24705334 RGD:401793714 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
JBrowse link
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr 2:170,930,547...171,017,133
Ensembl chr 2:170,930,542...171,016,695
JBrowse link
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr12:41,270,096...41,278,067
Ensembl chr12:41,270,087...41,277,995
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Exercise intolerance, cardiomyopathy, and septooptic dysplasia ClinVar PMID:11891837 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:26741492 PMID:30283131 NCBI chr20:47,357,206...47,382,160
Ensembl chr20:47,357,216...47,382,135
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Nutritional and Metabolic Diseases 8225
      disease of metabolism 8225
        mitochondrial metabolism disease 808
          Mitochondrial Cardiomyopathy 5
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          inherited metabolic disorder 6206
            mitochondrial metabolism disease 808
              Mitochondrial Cardiomyopathy 5
paths to the root