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
Accession: DOID:9000777
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
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
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
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
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
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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
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