Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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:

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

In Mondo Disease Ontology:
MONDO:0010924 - D-2-hydroxyglutaric aciduria

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : idh2, d2hgdh

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): 2-hydroxyglutaric aciduria (is_a)