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Summary Literature (0)
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.

Synonyms:

Xenbase Genes : slc25a1, idh2, d2hgdh, l2hgdh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016001 - 2-hydroxyglutaric aciduria


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a)