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Summary Literature (0)
DOID:14749 - methylmalonic acidemia

Disease Ontology Definition:An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Synonyms: METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria, methylmalonic aciduria cblB type, methylmalonic aciduria mut type, methylmalonic aciduria type cblA, methylmalonic aciduria type cblB,

Xenbase Genes : prdx1, mmachc, mmadhc, mmaa, mmab, mtr, mmut, lmbrd1, mtrr, gdi1, hcfc1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0002012 - methylmalonic acidemia


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

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