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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:2-hydroxyglutaric aciduria
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Accession:DOID:0050573 term browser browse the term
Definition:An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)
Synonyms:exact_synonym: 2-Hga;   2-hydroxyglutaricaciduria
 primary_id: MESH:C535306
 alt_id: OMIA:001371
 xref: GARD:10761;   NCI:C128187
For additional species annotation, visit the Alliance of Genome Resources.


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2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO DNA:mutations:exons:c.169G>A,c.542G>T(human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
RGD
CTD
PMID:15385440, PMID:15548604, PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506814, RGD:13506815, RGD:13506818 NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G SLC25A1 solute carrier family 25 member 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:
CTD
RGD
PMID:23561848 RGD:13506826 NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463
JBrowse link
combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A1 solute carrier family 25 member 1 ISO OMIM NCBI chr22:1,931,623...1,934,850
Ensembl chr22:17,609,157...17,612,463
JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
D-2-hydroxyglutaric aciduria 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase ISO OMIM NCBI chr2B:129,012,616...129,045,873
Ensembl chr2B:247,799,219...247,830,621
JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar PMID:8004109, PMID:9361298, PMID:10102421, PMID:10207904, PMID:10848620, PMID:11571214, PMID:25741868, PMID:28492532 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961
JBrowse link
D-2-hydroxyglutaric aciduria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO OMIM NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276
JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMAC2L distal membrane arm assembly complex 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:18414213, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr14:30,901,989...30,917,742 JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO OMIM NCBI chr14:30,832,194...30,901,922
Ensembl chr14:49,132,396...49,205,993
JBrowse link
G LOC100980742 putative uncharacterized protein encoded by LINC01599 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:30,671,031...30,680,109 JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:30,695,992...30,707,327
Ensembl chr14:49,002,181...49,013,187
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    Nutritional and Metabolic Diseases 3585
      disease of metabolism 3585
        inherited metabolic disorder 1968
          Metabolic Brain Diseases, Inborn 478
            2-hydroxyglutaric aciduria 9
              D-2-hydroxyglutaric aciduria + 3
              L-2-hydroxyglutaric aciduria 5
              combined D-2- and L-2-hydroxyglutaric aciduria 1
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        central nervous system disease 8519
          brain disease 7896
            Metabolic Brain Diseases 544
              Metabolic Brain Diseases, Inborn 478
                2-hydroxyglutaric aciduria 9
                  D-2-hydroxyglutaric aciduria + 3
                  L-2-hydroxyglutaric aciduria 5
                  combined D-2- and L-2-hydroxyglutaric aciduria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.