Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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		 ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral OMIM
ClinVar
RGD		 PMID:9175742 PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 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 18246
    syndrome 9798
      hepatic encephalopathy 35
        mitochondrial DNA depletion syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      gastrointestinal system disease 6656
        hepatobiliary disease 2813
          liver disease 2704
            Hepatic Insufficiency 159
              Liver Failure 151
                hepatic encephalopathy 35
                  mitochondrial DNA depletion syndrome 3 2
paths to the root