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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:combined D-2- and L-2-hydroxyglutaric aciduria
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Accession:DOID:0111619 term browser browse the term
Definition:A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21. (DO)
Synonyms:exact_synonym: D,L-2-HGA;   D,L-2-hydroxyglutaric acidemia;   D,L-2-hydroxyglutaric aciduria;   D2L2AD;   combined D,L-2-hydroxyglutaric aciduria;   combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia;   combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
 primary_id: OMIM:615182
 xref: ORDO:356978
For additional species annotation, visit the Alliance of Genome Resources.


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combined D-2- and L-2-hydroxyglutaric aciduria term browser
Symbol Object Name 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Nutritional and Metabolic Diseases 4702
      disease of metabolism 4702
        inherited metabolic disorder 2233
          Metabolic Brain Diseases, Inborn 509
            2-hydroxyglutaric aciduria 8
              combined D-2- and L-2-hydroxyglutaric aciduria 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            Metabolic Brain Diseases 579
              Metabolic Brain Diseases, Inborn 509
                2-hydroxyglutaric aciduria 8
                  combined D-2- and L-2-hydroxyglutaric aciduria 1
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