DOID:0050573 - 2-hydroxyglutaric aciduria
Disease Ontology Definition:An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.
Echinobase Genes : d2hgdh, l2hgdh, idh2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)