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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
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Accession:DOID:0070329 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)
Synonyms:exact_synonym: mitochondrial DNA depletion syndromes;   mtDNA depletion syndrome
 xref: GARD:13643;   OMIM:PS603041;   ORDO:35698
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mitochondrial DNA depletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr 4:115,987,101...116,014,733
Ensembl chr 4:115,979,094...116,014,733 		JBrowse link
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:23993193 PMID:24033266 PMID:25741868 PMID:27099744 PMID:27290639 NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:28492532 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:16401742 PMID:18487244 PMID:21301859 PMID:21880868 PMID:22000311 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 ClinVar NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:16504786 PMID:24033266 PMID:25446393 PMID:25741868 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome ClinVar PMID:25741868 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
Alpers-Huttenlocher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680636 RGD:5148026 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy		 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 Polg DNA polymerase gamma, catalytic subunit susceptibility ISO
IAGP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy
ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive
ClinVar Annotator: match by term: Alpers-Huttenlocher Syndrome
DNA:missense mutation:cds:p.P1073L (3218C>T) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4A (Alpers type)
DNA:missense mutations:cds:		 ClinVar
CTD
OMIM
RGD		 PMID:632821 PMID:1582434 PMID:1858914 PMID:2067633 PMID:2392416 More... RGD:8694184, RGD:15039298, RGD:8694317, RGD:8694284 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy ClinVar PMID:2392416 PMID:11301032 PMID:18546365 PMID:21447491 PMID:23430898 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
mitochondrial DNA depletion syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: MNGIE, TYMP-RELATED 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 (MNGIE type) 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, TYMP-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 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 (MNGIE type)
ClinVar Annotator: match by OMIM:603041
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)		 OMIM
ClinVar		 PMID:2005900 PMID:9924029 PMID:10852545 PMID:12084896 PMID:12177387 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 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 11
ClinVar Annotator: match by OMIM:615084		 OMIM
ClinVar		 PMID:23313956 PMID:25741868 PMID:28492532 PMID:28711739 NCBI chr 3:131,640,770...131,649,933
Ensembl chr 3:131,640,944...131,649,932 		JBrowse link
mitochondrial DNA depletion syndrome 12a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:21415153 PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar PMID:8852659 PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 More... NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant ClinVar
OMIM		 PMID:25741868 PMID:27693233 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
mitochondrial DNA depletion syndrome 12b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive OMIM
ClinVar		 PMID:7609449 PMID:8479824 PMID:16155110 PMID:22187496 PMID:25732997 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
mitochondrial DNA depletion syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl4 F-box and leucine-rich repeat protein 4 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM
ClinVar		 PMID:23993193 PMID:23993194 PMID:24033266 PMID:24088041 PMID:25326635 More... NCBI chr 5:35,955,801...36,029,446
Ensembl chr 5:35,955,812...36,029,443 		JBrowse link
mitochondrial DNA depletion syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM		 PMID:27448789 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
Mitochondrial DNA Depletion Syndrome 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) ClinVar PMID:25741868 NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) OMIM
ClinVar		 PMID:25741868 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) ClinVar NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE) ClinVar
OMIM		 NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
Mitochondrial DNA Depletion Syndrome 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrm2 mitochondrial rRNA methyltransferase 2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 OMIM
ClinVar		 PMID:28973171 NCBI chr12:14,309,556...14,314,759
Ensembl chr12:14,251,941...14,314,118 		JBrowse link
Mitochondrial DNA Depletion Syndrome 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 18 ClinVar
OMIM		 PMID:29517768 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		JBrowse link
Mitochondrial DNA Depletion Syndrome 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a10 solute carrier family 25 member 10 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 19 OMIM
ClinVar		 PMID:25741868 PMID:29211846 NCBI chr10:105,765,598...105,775,159
Ensembl chr10:105,765,372...105,773,556 		JBrowse link
mitochondrial DNA depletion syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 2
ClinVar Annotator: match by OMIM:609560		 OMIM
ClinVar		 PMID:1734306 PMID:11687801 PMID:12391347 PMID:12493767 PMID:12655576 More... NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers 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
RGD		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... RGD:15039296, RGD:15039214 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
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
mitochondrial DNA depletion syndrome 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: MNGIE, POLG-RELATED ClinVar PMID:10431241 PMID:18231121 PMID:20236127 PMID:20979233 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: MNGIE, POLG-RELATED 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 Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: MNGIE, POLG-RELATED
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type
ClinVar Annotator: match by OMIM:613662		 OMIM
ClinVar		 PMID:632821 PMID:1858914 PMID:9536098 PMID:11431686 PMID:11571332 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 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
ClinVar Annotator: match by OMIM:612073		 OMIM
ClinVar		 PMID:17287286 PMID:17301081 PMID:20843780 PMID:23759946 PMID:25741868 More... NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
mitochondrial DNA depletion syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Navajo neurohepatopathy
ClinVar Annotator: match by term: MPV17-related mitochondrial DNA maintenance defect
ClinVar Annotator: match by OMIM:256810		 OMIM
ClinVar		 PMID:16199547 PMID:16582910 PMID:16909392 PMID:17694548 PMID:18261905 More... NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
mitochondrial DNA depletion syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia ClinVar PMID:29764912 NCBI chr17:63,795,670...63,827,313
Ensembl chr17:63,795,671...63,839,907 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: mitochondrial hepatopathy ClinVar PMID:25741868 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia
ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS
ClinVar Annotator: match by term: Spinocerebellar ataxia infantile with sensory neuropathy
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
ClinVar Annotator: match by OMIM:271245		 OMIM
ClinVar		 PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers 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: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: 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 PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 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: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by OMIM:612075		 ClinVar
OMIM		 PMID:9536098 PMID:17486094 PMID:17576681 PMID:19138848 PMID:19664747 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome		 ClinVar PMID:2005900 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19667227 PMID:24741716 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
mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
ClinVar Annotator: match by OMIM:245400		 OMIM
ClinVar		 PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 More... NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600 		JBrowse link
Mitochondrial DNA Depletion Syndrome, MNGIE Type term browser
Symbol Object Name Qualifiers 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: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: 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 PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: MNGIE syndrome		 ClinVar PMID:2005900 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 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
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
ClinVar Annotator: match by term: Cataract and cardiomyopathy
ClinVar Annotator: match by OMIM:212350
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3560758 PMID:15168109 PMID:16199547 PMID:22277967 PMID:22284826 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract and cardiomyopathy ClinVar PMID:22277967 PMID:22284826 PMID:28492532 NCBI chr 4:69,197,161...69,266,013
Ensembl chr 4:69,198,068...69,228,821 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        mitochondrial metabolism disease 395
          mitochondrial DNA depletion syndrome 30
            Alpers-Huttenlocher syndrome + 5
            MITOCHONDRIAL DNA DEPLETION SYNDROME 16B 2
            Mitochondrial DNA Depletion Syndrome 16 2
            Mitochondrial DNA Depletion Syndrome 17 1
            Mitochondrial DNA Depletion Syndrome 18 1
            Mitochondrial DNA Depletion Syndrome 19 1
            Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 3
            Mitochondrial DNA Depletion Syndrome, MNGIE Type + 6
            Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
            Sengers syndrome 3
            mitochondrial DNA depletion syndrome 11 1
            mitochondrial DNA depletion syndrome 12a 3
            mitochondrial DNA depletion syndrome 12b 1
            mitochondrial DNA depletion syndrome 13 1
            mitochondrial DNA depletion syndrome 14 1
            mitochondrial DNA depletion syndrome 15 1
            mitochondrial DNA depletion syndrome 3 3
            mitochondrial DNA depletion syndrome 5 1
            mitochondrial DNA depletion syndrome 6 1
            mitochondrial DNA depletion syndrome 8b 2
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          inherited metabolic disorder 2650
            mitochondrial metabolism disease 395
              mitochondrial DNA depletion syndrome 30
                Alpers-Huttenlocher syndrome + 5
                MITOCHONDRIAL DNA DEPLETION SYNDROME 16B 2
                Mitochondrial DNA Depletion Syndrome 16 2
                Mitochondrial DNA Depletion Syndrome 17 1
                Mitochondrial DNA Depletion Syndrome 18 1
                Mitochondrial DNA Depletion Syndrome 19 1
                Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive + 3
                Mitochondrial DNA Depletion Syndrome, MNGIE Type + 6
                Mitochondrial DNA Depletion Syndrome, Myopathic Form + 1
                Sengers syndrome 3
                mitochondrial DNA depletion syndrome 11 1
                mitochondrial DNA depletion syndrome 12a 3
                mitochondrial DNA depletion syndrome 12b 1
                mitochondrial DNA depletion syndrome 13 1
                mitochondrial DNA depletion syndrome 14 1
                mitochondrial DNA depletion syndrome 15 1
                mitochondrial DNA depletion syndrome 3 3
                mitochondrial DNA depletion syndrome 5 1
                mitochondrial DNA depletion syndrome 6 1
                mitochondrial DNA depletion syndrome 8b 2
                mitochondrial DNA depletion syndrome 9 1
paths to the root