DOID:0060740 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Disease Ontology 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.
Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria mut type, vitamin B12-unresponsive methylmalonic aciduria
|OMIM:251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY|
|MONDO:0009612 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : mmut
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD