FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term methylmalonic acidemia cblA type ID (Ontology) DOID:0060742 (Human Disease)
Definition A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31.
Also Known As "methylmalonic aciduria cblA type" ; "methylmalonic aciduria of the cblA complementation type" ; "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type"
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  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic acidemia cblA type
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Synonyms
  • "methylmalonic aciduria cblA type" EXACT
    "methylmalonic aciduria of the cblA complementation type" EXACT
    "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT
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ICD10CM:E71.1
MIM:251100
ORDO:79310