About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory