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- B2ebe139559859591808c8fcdb67e8c85 NCIT_P378 "NCI" @default.
- B2ebe139559859591808c8fcdb67e8c85 type Axiom @default.
- B2ebe139559859591808c8fcdb67e8c85 annotatedProperty IAO_0000115 @default.
- B2ebe139559859591808c8fcdb67e8c85 annotatedSource NCIT_C131085 @default.
- B2ebe139559859591808c8fcdb67e8c85 annotatedTarget "Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension." @default.