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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:Subacute Necrotizing Encephalopathy of Leigh, Infantile
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Accession:DOID:9000680 term browser browse the term
Synonyms:exact_synonym: Leigh's necrotizing encephalopathy
 primary_id: MESH:C538590;   RDO:0004518

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Subacute Necrotizing Encephalopathy of Leigh, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5po ATP synthase peripheral stalk subunit OSCP ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35621276 NCBI chrNW_004955407:33,288,194...33,298,817
Ensembl chrNW_004955407:33,286,178...33,299,420 		JBrowse link
G Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:20818383 PMID:20858599 PMID:22200994 PMID:23757202 PMID:24033266 More... NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Gamt guanidinoacetate N-methyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:11978605 PMID:12468279 PMID:20301745 PMID:25741868 PMID:28492532 NCBI chrNW_004955495:6,536,541...6,539,424
Ensembl chrNW_004955495:6,536,544...6,539,424 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25130867 PMID:25741868 PMID:28492532 PMID:33327715 PMID:33972171 NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G LOC102017801 cytochrome c oxidase assembly protein COX15 homolog ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 More... NCBI chrNW_004955507:5,600,605...5,617,556
Ensembl chrNW_004955507:5,600,605...5,617,556 		JBrowse link
G LOC102022268 protoheme IX farnesyltransferase, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:23665194 PMID:23814038 PMID:25741868 PMID:28492532 PMID:39152498 NCBI chrNW_004955467:3,294,200...3,415,778
Ensembl chrNW_004955467:3,292,018...3,415,778 		JBrowse link
G LOC102030058 protein SCO1 homolog, mitochondrial ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955467:6,519,873...6,535,321
Ensembl chrNW_004955467:6,519,873...6,537,753 		JBrowse link
G Lrpprc leucine rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955441:11,012,910...11,116,965 JBrowse link
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 More... NCBI chrNW_004955450:10,399,472...10,415,813
Ensembl chrNW_004955450:10,399,470...10,415,872 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955542:1,329,802...1,370,109
Ensembl chrNW_004955542:1,329,212...1,370,695 		JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:35141356 NCBI chrNW_004955405:31,607,182...31,621,538
Ensembl chrNW_004955405:31,606,924...31,621,590 		JBrowse link
G Ndufa13 NADH:ubiquinone oxidoreductase subunit A13 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:32722639 NCBI chrNW_004955524:2,426,604...2,433,682
Ensembl chrNW_004955524:2,426,604...2,433,679 		JBrowse link
G Ndufaf2 NADH:ubiquinone oxidoreductase complex assembly factor 2 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:16200211 PMID:18180188 PMID:20818383 PMID:21364701 PMID:21924235 More... NCBI chrNW_004955446:7,345,467...7,439,885 JBrowse link
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy | ClinVar Annotator: match by term: Necrotizing encephalopathy infantile subacute of Leigh ClinVar PMID:9536098 PMID:17576681 PMID:25326635 PMID:25356970 PMID:25741868 More... NCBI chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26741492 PMID:28492532 More... NCBI chrNW_004955417:11,159,449...11,180,323
Ensembl chrNW_004955417:11,150,282...11,180,323 		JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955457:8,838,216...8,879,059
Ensembl chrNW_004955457:8,838,216...8,883,481 		JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33097395 NCBI chrNW_004955422:713,370...717,926
Ensembl chrNW_004955422:709,784...717,926 		JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955446:13,764,907...13,864,824
Ensembl chrNW_004955446:13,764,907...13,864,824 		JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:10330338 PMID:10360771 PMID:11004438 PMID:11978605 PMID:12468279 More... NCBI chrNW_004955495:6,540,360...6,548,072
Ensembl chrNW_004955495:6,540,450...6,547,975 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9837812 PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 More... NCBI chrNW_004955422:17,781,374...17,785,395
Ensembl chrNW_004955422:17,781,204...17,784,404 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:9536098 PMID:10080174 PMID:11349233 PMID:11494300 PMID:14662656 More... NCBI chrNW_004955422:17,876,496...17,881,773
Ensembl chrNW_004955422:17,873,872...17,881,773 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:1492653 PMID:7550341 PMID:11423010 PMID:16195397 PMID:17298551 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494 		JBrowse link
G Surf1 surfeit 1 ISO ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy ClinVar PMID:2933018 PMID:10443880 PMID:22488715 PMID:23806086 PMID:24027061 More... NCBI chrNW_004955513:2,707,877...2,711,606
Ensembl chrNW_004955513:2,707,951...2,711,566 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14341
    Nutritional and Metabolic Diseases 6994
      disease of metabolism 6994
        Metabolic Brain Diseases 1386
          Metabolic Brain Diseases, Inborn 1265
            Leigh disease 168
              Subacute Necrotizing Encephalopathy of Leigh, Infantile 25
Path 2
Term Annotations click to browse term
  disease 14341
    Developmental Disease 12613
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          inherited metabolic disorder 5536
            carbohydrate metabolic disorder 2669
              Pyruvate Metabolism, Inborn Errors 254
                Leigh disease 168
                  Subacute Necrotizing Encephalopathy of Leigh, Infantile 25
paths to the root