isovaleric acidemia Disease Ontology Browser

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Disease Ontology Browser

isovaleric acidemia (DOID:14753)
Alliance: disease page
Synonyms: isovaleric acid CoA dehydrogenase deficiency; isovaleric aciduria; Isovaleryl-CoA dehydrogenase deficiency
Alt IDs: OMIM:243500, ICD10CM:E71.110, MESH:C538167, NCI:C98964, UMLS_CUI:C0268575
Definition: An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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