ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 4B
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Accession:DOID:0080123 term browser browse the term
Synonyms:exact_synonym: MNGIE, POLG-related;   MTDPS4B;   Mitochondrial DNA Depletion Syndrome 4B (MNGIE Type);   mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related
 primary_id: OMIM:613662
 alt_id: RDO:0009932
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mitochondrial DNA depletion syndrome 4B 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:7240710
RGD:8554872

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Path 1
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        mitochondrial metabolism disease 330
          Mitochondrial DNA Depletion Syndromes 23
            mitochondrial DNA depletion syndrome 4B 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            autosomal genetic disease 2140
              autosomal recessive disease 1257
                mitochondrial DNA depletion syndrome 4B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.