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ONTOLOGY REPORT - ANNOTATIONS


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 VARS2 on chromosome 6p21.33. (DO)
Synonyms:exact_synonym: COXPD20
 primary_id: OMIM:615917
 xref: ORDO:420728
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combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vars2 valyl-tRNA synthetase 2, mitochondrial JBrowse link 20 3,588,462 3,599,514 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15602
    Nutritional and Metabolic Diseases 4396
      disease of metabolism 4396
        mitochondrial metabolism disease 310
          combined oxidative phosphorylation deficiency 44
            combined oxidative phosphorylation deficiency 20 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal recessive disease 2106
                combined oxidative phosphorylation deficiency 20 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.