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ONTOLOGY REPORT - ANNOTATIONS


Term:L-2-hydroxyglutaric aciduria
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Accession:DOID:0050574 term browser browse the term
Definition:An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)
Synonyms:exact_synonym: L-2-hydroxyglutaric acidemia;   L-2-hydroxyglutaricacidemia;   L2HGA
 primary_id: OMIM:236792
 alt_id: RDO:9004214
 xref: GARD:10472;   ORDO:79314
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L-2-hydroxyglutaric aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmac2l distal membrane arm assembly complex 2 like JBrowse link 6 92,057,782 92,076,022 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:8554872
RGD:7240710
RGD:13506824
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 JBrowse link 6 91,885,292 92,008,059 RGD:8554872
G Vcpkmt valosin containing protein lysine methyltransferase JBrowse link 6 91,880,342 91,884,336 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        inherited metabolic disorder 1899
          Metabolic Brain Diseases, Inborn 414
            2-hydroxyglutaric aciduria 8
              L-2-hydroxyglutaric aciduria 4
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                2-hydroxyglutaric aciduria 8
                  L-2-hydroxyglutaric aciduria 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.