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- NCIT_C126809 IAO_0000115 "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.
- NCIT_C126809 NCIT_A13 NCIT_C28571 @default.
- NCIT_C126809 NCIT_NHC0 "C126809" @default.
- NCIT_C126809 NCIT_P106 "Finding" @default.
- NCIT_C126809 NCIT_P108 "Glucocorticoid Resistance" @default.
- NCIT_C126809 NCIT_P207 "C1841972" @default.
- NCIT_C126809 NCIT_P322 "Cellosaurus" @default.
- NCIT_C126809 NCIT_P322 "NICHD" @default.
- NCIT_C126809 NCIT_P325 "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, resulting in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare." @default.
- NCIT_C126809 normalizedInformationContent "100" @default.
- NCIT_C126809 referenceCount "1" @default.
- NCIT_C126809 hasExactSynonym "Chrousos Syndrome" @default.
- NCIT_C126809 hasExactSynonym "Generalized Glucocorticoid Resistance" @default.
- NCIT_C126809 hasExactSynonym "Glucocorticoid Resistance" @default.
- NCIT_C126809 inSubset NCIT_C118467 @default.
- NCIT_C126809 inSubset NCIT_C165258 @default.
- NCIT_C126809 inSubset NCIT_C192842 @default.
- NCIT_C126809 inSubset NCIT_C90259 @default.
- NCIT_C126809 type Class @default.
- NCIT_C126809 isDefinedBy ncit.owl @default.
- NCIT_C126809 label "Glucocorticoid Resistance" @default.
- NCIT_C126809 subClassOf NCIT_C126809 @default.
- NCIT_C126809 subClassOf NCIT_C3367 @default.
- NCIT_C126809 subClassOf NCIT_C36278 @default.
- NCIT_C126809 subClassOf NCIT_C36285 @default.
- NCIT_C126809 subClassOf NCIT_C7057 @default.
- NCIT_C126809 subClassOf NCIT_C92809 @default.