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 Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) 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)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease 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 Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes 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 Presentations 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, MNGIE Type
go back to main search page
Accession:DOID:9001263 term browser browse the term
Synonyms:exact_synonym: MEPOP;   MNGIE;   MNGIE phenotype;   MNGIE syndrome;   POLIP;   POLIP syndrome;   mitochondrial neurogastrointestinal encephalopathy;   myoneurogastrointestinal encephalopathy syndrome;   polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction


show annotations for term's descendants           Sort by:
Mitochondrial DNA Depletion Syndrome, MNGIE Type 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION 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 ClinVar Annotator: match by term: MNGIE syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION 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 syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 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
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 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) | ClinVar Annotator: match by term: TYMP-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
mitochondrial DNA depletion syndrome 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lig3 DNA ligase 3 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 20 (mngie type) OMIM
ClinVar		 PMID:25741868 PMID:33855352 PMID:34165507 NCBI chr10:67,717,808...67,741,141
Ensembl chr10:67,717,812...67,798,414 		JBrowse link
mitochondrial DNA depletion syndrome 4B 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 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
mitochondrial DNA depletion syndrome 8A 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION 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 ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 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 Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 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
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)		 OMIM
CTD
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 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 18976
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          mitochondrial DNA depletion syndrome 41
            Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
              mitochondrial DNA depletion syndrome 1 4
              mitochondrial DNA depletion syndrome 20 1
              mitochondrial DNA depletion syndrome 4B 2
              mitochondrial DNA depletion syndrome 8A 5
              mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              mitochondrial DNA depletion syndrome 41
                Mitochondrial DNA Depletion Syndrome, MNGIE Type 6
                  mitochondrial DNA depletion syndrome 1 4
                  mitochondrial DNA depletion syndrome 20 1
                  mitochondrial DNA depletion syndrome 4B 2
                  mitochondrial DNA depletion syndrome 8A 5
                  mitochondrial DNA depletion syndrome 8b 2
paths to the root