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ONTOLOGY REPORT - ANNOTATIONS


Term:Mitochondrial DNA Depletion Syndrome, MNGIE Type
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Accession:DOID:9001263 term browser browse the term
Synonyms:exact_synonym: MEPOP;   MNGIE;   MNGIE phenotype;   MNGIE syndrome;   POLIP;   POLIP syndrome;   mitochondrial neurogastrointestinal encephalopathy;   myoneurogastrointestinal encephalopathy syndrome;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction
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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
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 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 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

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
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 5
              mitochondrial DNA depletion syndrome 1 4
              mitochondrial DNA depletion syndrome 4B 2
              mitochondrial DNA depletion syndrome 8A 5
              mitochondrial DNA depletion syndrome 8b 2
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
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 5
                  mitochondrial DNA depletion syndrome 1 4
                  mitochondrial DNA depletion syndrome 4B 2
                  mitochondrial DNA depletion syndrome 8A 5
                  mitochondrial DNA depletion syndrome 8b 2
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.