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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
 primary_id: RDO:9000719
For additional species annotation, visit the Alliance of Genome Resources.

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Mitochondrial Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr 2:184,600,695...184,679,980
Ensembl chr 2:184,600,721...184,679,683 		JBrowse link
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial ClinVar PMID:30283131 NCBI chr12:47,031,545...47,039,556
Ensembl chr12:46,989,951...47,039,542
Ensembl chr12:46,989,951...47,039,542 		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
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 chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        mitochondrial metabolism disease 350
          Mitochondrial Cardiomyopathy 4
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2235
            mitochondrial metabolism disease 350
              Mitochondrial Cardiomyopathy 4
paths to the root