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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 chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:exons:c.1015delA,c.1319C>A, c.169G>A(human)
DNA:mutations:exons:c.169G>A,c.542G>T(human)
CTD PMID:15385440 PMID:15548604 PMID:21937992, PMID:24894778, PMID:25763823, PMID:26208971 RGD:13506818, RGD:13506815, RGD:13506814 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO DNA:mutations:exons:
CTD Direct Evidence: marker/mechanism
CTD PMID:23561848 RGD:13506826 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
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 ClinVar Annotator: match by term: Combined d-2- and l-2-hydroxyglutaric aciduria OMIM
ClinVar
PMID:23393310 PMID:23561848 PMID:25741868 NCBI chr11:87,204,248...87,207,265
Ensembl chr11:87,204,175...87,207,264
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 chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 treatment ISO DNA:mutation:cds:p.R140Q(mouse) RGD PMID:27469509 RGD:13506812 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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 ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1 ClinVar
OMIM
PMID:7609436 PMID:15609246 PMID:16037974 PMID:16081310 PMID:16442322 PMID:18414213 PMID:20020533 PMID:21384162 PMID:22391998 PMID:25741868 PMID:26178471 PMID:28492532 PMID:30908763 NCBI chr 9:100,956,570...100,974,393
Ensembl chr 9:100,956,477...100,974,551
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:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
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 ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2 ClinVar
OMIM
PMID:18414213 PMID:20171147 PMID:20847235 PMID:20946881 PMID:21889589 PMID:22160010 PMID:22397365 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28492532 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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 component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:92,057,782...92,076,022
Ensembl chr 6:92,057,807...92,076,021
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria
DNA:mutation:cds:c.241A4G(p.K81E)(human)
ClinVar
OMIM
PMID:9536098 PMID:15385440 PMID:16134148 PMID:17576681 PMID:18362286 PMID:18414213 PMID:19911013 PMID:20052767 PMID:21937992 PMID:22030381 PMID:25741868 PMID:26467025 PMID:26829733 PMID:28492532, PMID:24573090 RGD:13506824 NCBI chr 6:92,016,560...92,057,643
Ensembl chr 6:92,016,622...92,057,816
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 chr 6:91,885,292...92,008,059
Ensembl chr 6:91,883,425...92,007,957
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 6:91,880,342...91,884,336 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2355
          Metabolic Brain Diseases, Inborn 516
            2-hydroxyglutaric aciduria 8
              D-2-hydroxyglutaric aciduria + 3
              L-2-hydroxyglutaric aciduria 4
              combined D-2- and L-2-hydroxyglutaric aciduria 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            Metabolic Brain Diseases 586
              Metabolic Brain Diseases, Inborn 516
                2-hydroxyglutaric aciduria 8
                  D-2-hydroxyglutaric aciduria + 3
                  L-2-hydroxyglutaric aciduria 4
                  combined D-2- and L-2-hydroxyglutaric aciduria 1
paths to the root