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Echinobase
Summary Literature (0)
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 aciduria mut type, vitamin B12-unresponsive methylmalonic aciduria, methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

Echinobase Genes : mmut


MIM:
MIM:251000 - methylmalonic aciduria due to methylmalonyl-coa mutase deficiency

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): methylmalonic acidemia (is_a)