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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:0010184 - methylmalonic aciduria and homocystinuria type cblC |
| MIM:277400 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC |
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)