OBO ID: DOID:0060742
Term Name: methylmalonic acidemia cblA type Search Ontology:
Synonyms:
  • methylmalonic aciduria cblA type
  • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A 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 MMAA gene on chromosome 4q31. (2)
References:
Ontology: Human Disease   ( DOID:0060742 )
Relationships
is a type of:
OTHER methylmalonic acidemia cblA type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMAA Methylmalonic aciduria, vitamin B12-responsive, cblA type 251100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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