Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Deoxyguanosine Kinase Deficiency
go back to main search page
Accession:DOID:9000761 term browser browse the term
Synonyms:exact_synonym: Dguok-Related Mitochondrial Dna Depletion Syndrome;   Hepatocerebral Mitochondrial Dna Depletion Syndrome;   Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
 primary_id: MESH:C580039;   RDO:0015878
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Deoxyguanosine Kinase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form ClinVar PMID:23714749 PMID:23829229 PMID:25741868 PMID:26437932 PMID:28492532 PMID:28673863 PMID:30298599 PMID:31673878 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26342080 NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome, hepatocerebral form ClinVar PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        mitochondrial metabolism disease 388
          Deoxyguanosine Kinase Deficiency 4
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          inherited metabolic disorder 2606
            mitochondrial metabolism disease 388
              Deoxyguanosine Kinase Deficiency 4
paths to the root