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- B57d674df60d30513b36ae1c8240bfc6b hasDbXref "Orphanet:308425" @default.
- B57d674df60d30513b36ae1c8240bfc6b type Axiom @default.
- B57d674df60d30513b36ae1c8240bfc6b annotatedProperty IAO_0000115 @default.
- B57d674df60d30513b36ae1c8240bfc6b annotatedSource MONDO_0009615 @default.
- B57d674df60d30513b36ae1c8240bfc6b 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.