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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:D-2-hydroxyglutaric aciduria 2
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Accession:DOID:0111352 term browser browse the term
Definition:A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)
Synonyms:exact_synonym: D2HGA2
 primary_id: OMIM:613657
For additional species annotation, visit the Alliance of Genome Resources.


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D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar
OMIM
PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        inherited metabolic disorder 2619
          Metabolic Brain Diseases, Inborn 535
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria 3
                D-2-hydroxyglutaric aciduria 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            Metabolic Brain Diseases 605
              Metabolic Brain Diseases, Inborn 535
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria 3
                    D-2-hydroxyglutaric aciduria 2 1
paths to the root