FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term methylmalonic aciduria and homocystinuria type cblC ID (Ontology) DOID:0050715 (Human Disease)
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.
Also Known As "Cobalamin C deficiency" ; "MAHCC"
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 Genes
 methylmalonic aciduria and homocystinuria type cblC       2
 for disease ribbon | methylmalonic aciduria and homocystinuria type cblC       2
 model of | methylmalonic aciduria and homocystinuria type cblC       2
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organic acidemia
 |__methylmalonic acidemia__
polygenic disease           |
 |__digenic disease_________|
                            methylmalonic aciduria and homocystinuria type cblC  2 rec.
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Is a digenic disease
methylmalonic acidemia
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Synonyms
  • "Cobalamin C deficiency" EXACT
    "MAHCC" EXACT OMO:0003012
Secondary IDs
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MIM:277400