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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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L-2-hydroxyglutaric aciduria term browser
Symbol Object Name 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 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:15385440, PMID:16134148, 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 16045
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2232
          Metabolic Brain Diseases, Inborn 502
            2-hydroxyglutaric aciduria 8
              L-2-hydroxyglutaric aciduria 4
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                2-hydroxyglutaric aciduria 8
                  L-2-hydroxyglutaric aciduria 4
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.