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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
For additional species annotation, visit the Alliance of Genome Resources.

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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
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      hepatic encephalopathy 32
        mitochondrial DNA depletion syndrome 3 3
Path 2
Term Annotations click to browse term
  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
paths to the root

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