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RGD uses the Human Disease Ontology (DO, 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 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          Leigh disease 56
            Leigh Syndrome, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              Pyruvate Metabolism, Inborn Errors 77
                Leigh disease 56
                  Leigh Syndrome, X-Linked 1
paths to the root