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 cblF ID (Ontology) DOID:0050717 (Human Disease)
Definition A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
Also Known As "Cobalamin F deficiency" ; "MAHCF"
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  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic aciduria and homocystinuria type cblF
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Synonyms
  • "Cobalamin F deficiency" EXACT
    "MAHCF" EXACT OMO:0003012
Secondary IDs
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MIM:277380