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Human Disease

methylmalonic acidemia cblB type

Term ID
DOID:0060743
Synonyms
  • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
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. (2)
References
Ontology
Human Disease   ( DOID:0060743 )
Relationships
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Genes Involved
Zebrafish Models