FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term methylmalonic acidemia cblB type ID (Ontology) DOID:0060743 (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 MMAB gene on chromosome 12q24.
Also Known As "methylmalonic aciduria cblB type" ; "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type"
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  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic acidemia cblB type
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Synonyms
  • "methylmalonic aciduria cblB type" EXACT
    "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT
Secondary IDs
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ICD10CM:E71.1
MIM:251110
ORDO:79311