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Summary Literature (0)
DOID:0050574 - L-2-hydroxyglutaric aciduria

Disease Ontology Definition:An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).

Synonyms: L-2-HYDROXYGLUTARIC ACIDEMIA

Xenbase Genes : l2hgdh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009370 - L-2-hydroxyglutaric aciduria

MIM:
MIM:236792 - L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA

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), cerebellar disease (is_a)