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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


show annotations for term's descendants           Sort by:
Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY ClinVar PMID:21874000 PMID:23684012 PMID:25687217 PMID:25741868 PMID:26556299 More... NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 NCBI chr 1:211,228,708...211,327,792
Ensembl chr 1:211,228,731...211,329,940 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          pyruvate carboxylase deficiency disease 3
            Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                pyruvate carboxylase deficiency disease 3
                  Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency 2
paths to the root