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- Bc4845f814dab5caee80f2bc1515f0394 hasDbXref "Orphanet:289504" @default.
- Bc4845f814dab5caee80f2bc1515f0394 type Axiom @default.
- Bc4845f814dab5caee80f2bc1515f0394 annotatedProperty IAO_0000115 @default.
- Bc4845f814dab5caee80f2bc1515f0394 annotatedSource MONDO_0013661 @default.
- Bc4845f814dab5caee80f2bc1515f0394 annotatedTarget "Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline." @default.