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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
 alt_id: RDO:0008379
 xref: GARD:13644;   ORDO:279934
For additional species annotation, visit the Alliance of Genome Resources.


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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
ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3
OMIM
ClinVar
PMID:9175742 PMID:11687800 PMID:11983456 PMID:12205643 PMID:12210798 PMID:15887277 PMID:16908739 PMID:17073823 PMID:17452231 PMID:22622127 PMID:23043144 PMID:25131622 PMID:25741868 PMID:26874653 PMID:28492532, PMID:30404003, PMID:31127938 RGD:15039296, RGD:15039214 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 ISS OMIM:251880 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      hepatic encephalopathy 34
        mitochondrial DNA depletion syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        hepatobiliary disease 0
          liver disease 2413
            Hepatic Insufficiency 139
              Liver Failure 131
                hepatic encephalopathy 34
                  mitochondrial DNA depletion syndrome 3 3
paths to the root