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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:Leigh Syndrome, X-Linked
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Accession:DOID:9005926 term browser browse the term
Synonyms:primary_id: MESH:C564114;   RDO:0013183
For additional species annotation, visit the Alliance of Genome Resources.


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Leigh Syndrome, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: X-linked Leigh syndrome ClinVar PMID:7692352, PMID:8032855, PMID:8598634, PMID:23871722, PMID:25741868, PMID:28492532 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        mitochondrial metabolism disease 339
          Leigh disease 54
            Leigh Syndrome, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              Pyruvate Metabolism, Inborn Errors 75
                Leigh disease 54
                  Leigh Syndrome, X-Linked 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.