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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 3
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Accession:DOID:0080121 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: MTDPS3;   mitochondrial DNA depletion syndrome 3 (hepatocerebral type);   mitochondrial DNA depletion syndrome 3, hepatocerebral
 primary_id: OMIM:251880
 alt_id: RDO:0008379
 xref: GARD:13644;   ORDO:279934
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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
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

Term paths to the root
Path 1
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  disease 15599
    syndrome 5135
      hepatic encephalopathy 32
        mitochondrial DNA depletion syndrome 3 3
Path 2
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  disease 15599
    disease of anatomical entity 14927
      gastrointestinal system disease 4369
        hepatobiliary disease 2399
          liver disease 2311
            Hepatic Insufficiency 120
              Liver Failure 109
                hepatic encephalopathy 32
                  mitochondrial DNA depletion syndrome 3 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.