L-2-hydroxyglutaric aciduria

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Echinobase

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

Echinobase 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

: l2hgdh

MIM:

MIM:236792 - l-2-hydroxyglutaric aciduria

MIM:236792 - l-2-hydroxyglutaric aciduria

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)