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Summary Literature (0)
DOID:0050573 - 2-hydroxyglutaric aciduria

Disease Ontology Definition:An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage.


Referenced OMIM:

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

Xenbase Genes : slc25a1, idh2, d2hgdh, l2hgdh

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): amino acid metabolic disorder (is_a)

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Version: 4.14.0
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