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- B9ae768bd7d2ccbf85ac0a71b0b60b9cf hasDbXref "Orphanet:79159" @default.
- B9ae768bd7d2ccbf85ac0a71b0b60b9cf type Axiom @default.
- B9ae768bd7d2ccbf85ac0a71b0b60b9cf annotatedProperty IAO_0000115 @default.
- B9ae768bd7d2ccbf85ac0a71b0b60b9cf annotatedSource MONDO_0012648 @default.
- B9ae768bd7d2ccbf85ac0a71b0b60b9cf annotatedTarget "An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25)." @default.