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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 20
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Accession:DOID:0111478 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)
Synonyms:exact_synonym: COXPD20;   VARS2-RELATED CONDITION;   VARS2-RELATED DISORDERS
 primary_id: OMIM:615917
 xref: ORDO:420728


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combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VARS2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders OMIM
ClinVar		 PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 More... NCBI chr 7:23,404,400...23,416,442
Ensembl chr 7:23,404,824...23,416,439 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Nutritional and Metabolic Diseases 7080
      disease of metabolism 7080
        mitochondrial metabolism disease 798
          combined oxidative phosphorylation deficiency 72
            combined oxidative phosphorylation deficiency 20 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        genetic disease 17155
          monogenic disease 9978
            autosomal genetic disease 9202
              autosomal recessive disease 6386
                combined oxidative phosphorylation deficiency 20 1
paths to the root