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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:Maternally Inherited Leigh Syndrome
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Accession:DOID:9000973 term browser browse the term
Synonyms:exact_synonym: Leigh disease, maternally inherited;   Subacute necrotizing encephalomyelopathy maternally inherited
 primary_id: MESH:C536035;   RDO:0001449


show annotations for term's descendants           Sort by:
Maternally Inherited Leigh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:point mutation: :m.9185T>C (human)
DNA:point mutation: :m.9176T>C (human)
DNA:transversion: :m.8993T>G (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:27129022 PMID:18461509 PMID:15709156 PMID:14598233 RGD:5490262, RGD:5490270, RGD:5490291 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snps:cds:p.E59K, p.R159Q (human) RGD PMID:20301352 RGD:5148009 NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Maternally Inherited Leigh Syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          inherited metabolic disorder 6257
            mitochondrial metabolism disease 812
              cytochrome-c oxidase deficiency disease 225
                Leigh disease 191
                  Maternally Inherited Leigh Syndrome 2
paths to the root