|OBO ID: DOID:0050715|
|Term Name:||methylmalonic aciduria and homocystinuria type cblC||Search 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. http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22|
|Ontology:||Human Disease (DOID:0050715)|
|is a type of:||
OTHER methylmalonic aciduria and homocystinuria type cblC PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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