combined D-2- and L-2-hydroxyglutaric aciduria

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc25a1

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)