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:

Echinobase Genes : d2hgdh, idh2


OMIM:

MIM:600721 - d-2-@hydroxyglutaric aciduria 1

MIM:613657 - d-2-@hydroxyglutaric aciduria 2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee