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- Ba82b641029be13c2907bb0645f331e8f hasDbXref "Orphanet:28" @default.
- Ba82b641029be13c2907bb0645f331e8f type Axiom @default.
- Ba82b641029be13c2907bb0645f331e8f annotatedProperty IAO_0000115 @default.
- Ba82b641029be13c2907bb0645f331e8f annotatedSource MONDO_0017214 @default.
- Ba82b641029be13c2907bb0645f331e8f annotatedTarget "Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2)." @default.