Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B7dbaf2ef5f8939e9b2ac8ca097c2f213> ?p ?o ?g. }
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- B7dbaf2ef5f8939e9b2ac8ca097c2f213 hasDbXref "Orphanet:79157" @default.
- B7dbaf2ef5f8939e9b2ac8ca097c2f213 type Axiom @default.
- B7dbaf2ef5f8939e9b2ac8ca097c2f213 annotatedProperty IAO_0000115 @default.
- B7dbaf2ef5f8939e9b2ac8ca097c2f213 annotatedSource MONDO_0012392 @default.
- B7dbaf2ef5f8939e9b2ac8ca097c2f213 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.