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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      hepatic encephalopathy 34
        mitochondrial DNA depletion syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      gastrointestinal system disease 4595
        hepatobiliary disease 2465
          liver disease 2374
            Hepatic Insufficiency 134
              Liver Failure 123
                hepatic encephalopathy 34
                  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.