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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:combined oxidative phosphorylation deficiency 8
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Accession:DOID:0111479 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1. (DO)
Synonyms:exact_synonym: COXPD8;   fatal infantile mitochondrial cardiomyopathy;   hypertrophic mitochondrial cardiomyopathy, fatal infantile
 primary_id: OMIM:614096
 xref: ORDO:319504
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:614096
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8
OMIM
ClinVar
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25326637 PMID:25705216 PMID:25741868 PMID:27839525 PMID:28492532 PMID:29440775 PMID:30054184 PMID:30311386 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy ClinVar PMID:26008905 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link

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
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 8 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                combined oxidative phosphorylation deficiency 8 2
paths to the root