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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: GARD:13644;   MIM:251880;   MONDO:0009636;   ORDO:279934


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      hepatic encephalopathy 35
        mitochondrial DNA depletion syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      gastrointestinal system disease 7168
        hepatobiliary disease 3079
          liver disease 2964
            Hepatic Insufficiency 160
              Liver Failure 152
                hepatic encephalopathy 35
                  mitochondrial DNA depletion syndrome 3 2
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