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ONTOLOGY REPORT - ANNOTATIONS


Term:D-2-hydroxyglutaric aciduria 1
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Accession:DOID:0111351 term browser browse the term
Definition:A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)
Synonyms:exact_synonym: D2HGA1
 primary_id: OMIM:600721
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D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G D2hgdh D-2-hydroxyglutarate dehydrogenase JBrowse link 9 100,956,570 100,974,393 RGD:8554872
RGD:7240710
G Gjb1 gap junction protein, beta 1 JBrowse link X 71,272,030 71,279,973 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        inherited metabolic disorder 1862
          Metabolic Brain Diseases, Inborn 406
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria 3
                D-2-hydroxyglutaric aciduria 1 2
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            Metabolic Brain Diseases 472
              Metabolic Brain Diseases, Inborn 406
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria 3
                    D-2-hydroxyglutaric aciduria 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.