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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, MAHCC,

Xenbase Genes : prdx1, mmachc

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010184 - methylmalonic aciduria and homocystinuria type cblC


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

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