OBO ID: DOID:0060743
Term Name: methylmalonic acidemia cblB type Search Ontology:
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)
OTHER methylmalonic acidemia cblB type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMAB Methylmalonic aciduria, vitamin B12-responsive, cblB type 251110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None