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DO Term : methylmalonic aciduria and homocystinuria type cblC [DOID:0050715] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
277400,
MAHCC,
Cobalamin C deficiency,
OMIM:277400

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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