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Summary Literature (0)
DOID:0050575 - D-2-hydroxyglutaric aciduria


Disease Ontology Definition:An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.

Synonyms:

Xenbase Genes : idh2, d2hgdh

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010924 - D-2-hydroxyglutaric aciduria

OMIM:
OMIM:600721 - D-2-HYDROXYGLUTARIC ACIDURIA 1; D2HGA1
OMIM:613657 - D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): 2-hydroxyglutaric aciduria (is_a)