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:mitochondrial DNA depletion syndrome 1
go back to main search page
Accession:DOID:0080119 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: MNGIE, TYMP-related;   MTDPS1;   mitochondrial DNA depletion syndrome 1 (MNGIE type);   mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
 primary_id: OMIM:603041
 xref: GARD:9920;   NCI:C11967;   ORDO:298
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
CTD
ClinVar
PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) OMIM
ClinVar
PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12084896 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        mitochondrial metabolism disease 442
          mitochondrial DNA depletion syndrome 37
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
              mitochondrial DNA depletion syndrome 1 4
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            mitochondrial metabolism disease 442
              mitochondrial DNA depletion syndrome 37
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
                  mitochondrial DNA depletion syndrome 1 4
paths to the root