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- Be15b42f9160843dd45a8f5fde6e7ea4f hasDbXref "Orphanet:79157" @default.
- Be15b42f9160843dd45a8f5fde6e7ea4f type Axiom @default.
- Be15b42f9160843dd45a8f5fde6e7ea4f annotatedProperty IAO_0000115 @default.
- Be15b42f9160843dd45a8f5fde6e7ea4f annotatedSource MONDO_0012392 @default.
- Be15b42f9160843dd45a8f5fde6e7ea4f annotatedTarget "A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported." @default.