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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 Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency
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Accession:DOID:9004939 term browser browse the term
Synonyms:exact_synonym: Leigh syndrome due to pyruvate carboxylase deficiency
 primary_id: MESH:C536255;   RDO:0001757
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Nutritional and Metabolic Diseases 6770
      disease of metabolism 6770
        mitochondrial metabolism disease 442
          Leigh disease 64
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            Metabolic Brain Diseases 853
              Metabolic Brain Diseases, Inborn 743
                Leigh disease 64
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 0
paths to the root