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;   TYMP-RELATED CONDITION;   mitochondrial DNA depletion syndrome 1 (MNGIE type);   mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
 primary_id: OMIM:603041
 xref: GARD:9920;   NCI:C11967;   ORDO:298


GViewer not supported for the selected species.

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 Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
JBrowse link
G LOC101962609 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12177387 More... NCBI chrNW_004936629:318,581...320,804
Ensembl chrNW_004936629:318,581...320,795
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 chrNW_004936629:320,885...327,290
Ensembl chrNW_004936629:321,011...327,607
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit 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) ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 More... NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258
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) | ClinVar Annotator: match by term: TYMP-related condition OMIM
ClinVar
PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12084896 More... NCBI chrNW_004936629:315,609...320,356
Ensembl chrNW_004936629:315,610...319,076
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6774
      disease of metabolism 6774
        mitochondrial metabolism disease 767
          mitochondrial DNA depletion syndrome 41
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 7
              mitochondrial DNA depletion syndrome 1 5
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16378
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16321
        genetic disease 16308
          inherited metabolic disorder 5208
            mitochondrial metabolism disease 767
              mitochondrial DNA depletion syndrome 41
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 7
                  mitochondrial DNA depletion syndrome 1 5
paths to the root