About   Help   FAQ
Disease Ontology Browser
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (DOID:0060740)
Alliance: disease page
Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency; methylmalonic aciduria mut type; vitamin B12-unresponsive methylmalonic aciduria
Alt IDs: OMIM:251000, ICD10CM:E71.1, MESH:C565390, ORDO:27
Definition: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.

Disease References using Mouse Models (9)
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