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DOID:0060742 - methylmalonic acidemia cb1A 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, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type,
Echinobase Genes
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| MIM:251100 - 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):
methylmalonic acidemia (is_a)