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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome
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Accession:DOID:0070329 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)
Synonyms:exact_synonym: mitochondrial DNA depletion syndromes;   mtDNA depletion syndrome
 xref: GARD:13643;   OMIM:PS603041;   ORDO:35698
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mitochondrial DNA depletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha JBrowse link 4 101,181,315 101,210,692 RGD:8554872
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
Alpers-Huttenlocher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148026
G Edar ectodysplasin-A receptor JBrowse link 20 28,179,132 28,263,092 RGD:8554872
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694184
RGD:8554872
RGD:15039298
RGD:11554173
RGD:7240710
RGD:8694317
RGD:8694284
G Rlbp1 retinaldehyde binding protein 1 JBrowse link 1 141,097,789 141,111,375 RGD:8554872
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
RGD:11554173
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mgme1 mitochondrial genome maintenance exonuclease 1 JBrowse link 3 138,397,925 138,406,672 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a4 solute carrier family 25 member 4 JBrowse link 16 49,266,903 49,270,698 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl4 F-box and leucine-rich repeat protein 4 JBrowse link 5 36,555,061 36,628,920 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfam transcription factor A, mitochondrial JBrowse link 20 18,594,057 18,606,106 RGD:8554872
RGD:7240710
Mitochondrial DNA Depletion Syndrome 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Milr1 mast cell immunoglobulin-like receptor 1 JBrowse link 10 94,944,243 94,961,795 RGD:8554872
G Polg2 DNA polymerase gamma 2, accessory subunit JBrowse link 10 94,968,836 94,979,259 RGD:7240710
RGD:8554872
Mitochondrial DNA Depletion Syndrome 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mrm2 mitochondrial rRNA methyltransferase 2 JBrowse link 12 16,398,749 16,403,656 RGD:7240710
RGD:8554872
Mitochondrial DNA Depletion Syndrome 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a21 solute carrier family 25 member 21 JBrowse link 6 77,624,384 78,121,339 RGD:8554872
RGD:7240710
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tk2 thymidine kinase 2 JBrowse link 19 917,203 939,236 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:7240710
RGD:8554872
RGD:15039296
RGD:15039214
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:8554872
mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sucla2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 15 55,461,695 55,516,954 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B JBrowse link 7 76,750,045 76,780,817 RGD:8554872
RGD:11554173
RGD:7240710
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:11554173
RGD:8554872
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha JBrowse link 4 101,181,315 101,210,692 RGD:7240710
RGD:8554872
Mitochondrial DNA Depletion Syndrome, MNGIE Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Ncaph2 non-SMC condensin II complex, subunit H2 JBrowse link 7 130,326,597 130,343,655 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Tymp thymidine phosphorylase JBrowse link 7 130,342,481 130,347,845 RGD:8554872
Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Nutritional and Metabolic Diseases 4644
      disease of metabolism 4644
        mitochondrial metabolism disease 324
          mitochondrial DNA depletion syndrome 26
            Alpers-Huttenlocher syndrome + 5
            Mitochondrial DNA Depletion Syndrome 16 2
            Mitochondrial DNA Depletion Syndrome 17 1
            Mitochondrial DNA Depletion Syndrome 18 1
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
            Mitochondrial DNA Depletion Syndrome, MNGIE Type + 5
            Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
            Sengers syndrome 3
            mitochondrial DNA depletion syndrome 11 1
            mitochondrial DNA depletion syndrome 12a 1
            mitochondrial DNA depletion syndrome 12b 1
            mitochondrial DNA depletion syndrome 13 1
            mitochondrial DNA depletion syndrome 14 1
            mitochondrial DNA depletion syndrome 15 1
            mitochondrial DNA depletion syndrome 2 1
            mitochondrial DNA depletion syndrome 3 3
            mitochondrial DNA depletion syndrome 5 1
            mitochondrial DNA depletion syndrome 6 1
            mitochondrial DNA depletion syndrome 8b 2
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          inherited metabolic disorder 2179
            mitochondrial metabolism disease 324
              mitochondrial DNA depletion syndrome 26
                Alpers-Huttenlocher syndrome + 5
                Mitochondrial DNA Depletion Syndrome 16 2
                Mitochondrial DNA Depletion Syndrome 17 1
                Mitochondrial DNA Depletion Syndrome 18 1
                Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 2
                Mitochondrial DNA Depletion Syndrome, MNGIE Type + 5
                Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
                Sengers syndrome 3
                mitochondrial DNA depletion syndrome 11 1
                mitochondrial DNA depletion syndrome 12a 1
                mitochondrial DNA depletion syndrome 12b 1
                mitochondrial DNA depletion syndrome 13 1
                mitochondrial DNA depletion syndrome 14 1
                mitochondrial DNA depletion syndrome 15 1
                mitochondrial DNA depletion syndrome 2 1
                mitochondrial DNA depletion syndrome 3 3
                mitochondrial DNA depletion syndrome 5 1
                mitochondrial DNA depletion syndrome 6 1
                mitochondrial DNA depletion syndrome 8b 2
                mitochondrial DNA depletion syndrome 9 1
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.