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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 component 2 like ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:88,205,580...88,223,934
Ensembl chr 6:88,205,700...88,223,933
JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO DNA:mutation:cds:c.241A4G(p.K81E)(human)
ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria
OMIM
ClinVar
RGD
PMID:9536098 PMID:15385440 PMID:16134148 PMID:17576681 PMID:18414213 More... RGD:13506824 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr 6:88,036,485...88,042,151
Ensembl chr 6:88,036,494...88,042,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        inherited metabolic disorder 4663
          Metabolic Brain Diseases, Inborn 743
            2-hydroxyglutaric aciduria 59
              L-2-hydroxyglutaric aciduria 4
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            Metabolic Brain Diseases 855
              Metabolic Brain Diseases, Inborn 743
                2-hydroxyglutaric aciduria 59
                  L-2-hydroxyglutaric aciduria 4
paths to the root