ONTOLOGY REPORT - ANNOTATIONS


Term:Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive
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Accession:DOID:9003453 term browser browse the term
Synonyms:primary_id: MESH:C567608
 alt_id: RDO:0015645
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mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        mitochondrial metabolism disease 330
          Mitochondrial DNA Depletion Syndromes 23
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 7
              mitochondrial DNA depletion syndrome 7 7
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  myopathy 523
                    mitochondrial myopathy 79
                      Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive 7
                        mitochondrial DNA depletion syndrome 7 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.