About   Help   FAQ
Disease Ontology Browser
combined D-2- and L-2-hydroxyglutaric aciduria (DOID:0111619)
Alliance: disease page
Synonyms: 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; D,L-2-HGA; D,L-2-hydroxyglutaric acidemia; D,L-2-hydroxyglutaric aciduria
Alt IDs: OMIM:615182, ORDO:356978, UMLS_CUI:C4076194
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/19/2020
MGI 6.15
The Jackson Laboratory