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Summary Literature (0)
DOID:0111619 - combined D-2- and L-2-hydroxyglutaric aciduria

Disease Ontology 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 the SLC25A1 gene on chromosome 22q11.21.

Synonyms: combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria, combined D,L-2-hydroxyglutaric aciduria, D,L-2-HGA, D,L-2-hydroxyglutaric acidemia, D,L-2-hydroxyglutaric aciduria

Xenbase Genes : slc25a1


MIM:
MIM:615182 - COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 2-hydroxyglutaric aciduria (is_a), autosomal recessive disease (is_a)