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Summary Literature (0)
DOID:0060742 - methylmalonic acidemia cblA type

Disease 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 MMAA gene on chromosome 4q31.

Synonyms: methylmalonic aciduria cb1A type, methylmalonic aciduria cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type,

Xenbase Genes : mmaa

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009613 - methylmalonic aciduria, cblA type


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), methylmalonic acidemia (is_a)