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Disease Ontology Browser
3-hydroxyisobutryl-CoA hydrolase deficiency (DOID:0060949)
Alliance: disease page
Synonyms: HIBCH deficiency; Methacrylic aciduria; Valine metabolic defect
Alt IDs: OMIM:250620, ORDO:88639
Definition: An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32.

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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06/12/2024
MGI 6.13 		The Jackson Laboratory