|OBO ID: DOID:0060743|
|Term Name:||methylmalonic acidemia cblB type||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0060743)|
|is a type of:||
OTHER methylmalonic acidemia cblB type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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