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- Bad6ae06068108bc6b5e091dc24686b51 hasDbXref "Orphanet:308425" @default.
- Bad6ae06068108bc6b5e091dc24686b51 type Axiom @default.
- Bad6ae06068108bc6b5e091dc24686b51 annotatedProperty IAO_0000115 @default.
- Bad6ae06068108bc6b5e091dc24686b51 annotatedSource MONDO_0009615 @default.
- Bad6ae06068108bc6b5e091dc24686b51 annotatedTarget "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic." @default.