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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,
Echinobase Genes :
MIM: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)