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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
 primary_id: OMIM:251880
 xref: GARD:13644;   ORDO:279934


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mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral		 OMIM
CTD
ClinVar
RGD		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... RGD:15039214, RGD:15039296 NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      hepatic encephalopathy 35
        mitochondrial DNA depletion syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      gastrointestinal system disease 7093
        hepatobiliary disease 3069
          liver disease 2958
            Hepatic Insufficiency 161
              Liver Failure 153
                hepatic encephalopathy 35
                  mitochondrial DNA depletion syndrome 3 2
paths to the root