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- B5e8864149eab2df2e07d684d21c44a84 NCIT_P378 "NCI" @default.
- B5e8864149eab2df2e07d684d21c44a84 type Axiom @default.
- B5e8864149eab2df2e07d684d21c44a84 annotatedProperty IAO_0000115 @default.
- B5e8864149eab2df2e07d684d21c44a84 annotatedSource NCIT_C126809 @default.
- B5e8864149eab2df2e07d684d21c44a84 annotatedTarget "An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare." @default.