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Summary Literature (0)
DOID:14753 - isovaleric acidemia


Disease Ontology Definition:An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

Synonyms: Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency (disorder), isovaleric acid CoA dehydrogenase deficiency, isovaleric aciduria

Xenbase Genes : ivd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009475 - isovaleric acidemia

OMIM:
OMIM:243500 - ISOVALERIC ACIDEMIA; IVA

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): organic acidemia (is_a)