Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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

Xenbase Genes : prdx1, mmachc

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

OMIM:
OMIM:277400 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC

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)