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ONTOLOGY REPORT - ANNOTATIONS


Term:Deoxyguanosine Kinase Deficiency
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Accession:DOID:9000761 term browser browse the term
Synonyms:exact_synonym: Dguok-Related Mitochondrial Dna Depletion Syndrome;   Hepatocerebral Mitochondrial Dna Depletion Syndrome;   Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
 primary_id: MESH:C580039;   RDO:0015878
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Deoxyguanosine Kinase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:11554173
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 3 153,210,829 153,250,705 RGD:11554173
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15036
    Nutritional and Metabolic Diseases 4255
      disease of metabolism 4255
        mitochondrial metabolism disease 304
          Deoxyguanosine Kinase Deficiency 4
Path 2
Term Annotations click to browse term
  disease 15036
    Developmental Diseases 7870
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7198
        genetic disease 6569
          inherited metabolic disorder 1786
            mitochondrial metabolism disease 304
              Deoxyguanosine Kinase Deficiency 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.