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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:0009613 - methylmalonic aciduria, cblA type |
Other Model Organisms: Alliance, 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)