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Echinobase
Summary Literature (0)
DOID:0050715 - methylmalonic aciduria and homocystinuria type cblC

Disease Ontology Definition:A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.

Synonyms: Cobalamin C deficiency,

Echinobase Genes : mmachc, LOC581408


OMIM:
MIM:277400 - methylmalonic aciduria and homocystinuria, cblc type

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)