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- NCIT_C131084 IAO_0000115 "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." @default.
- NCIT_C131084 NCIT_NHC0 "C131084" @default.
- NCIT_C131084 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131084 NCIT_P108 "11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency" @default.
- NCIT_C131084 NCIT_P208 "CL514198" @default.
- NCIT_C131084 NCIT_P322 "NICHD" @default.
- NCIT_C131084 NCIT_P325 "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." @default.
- NCIT_C131084 NCIT_R176 NCIT_C113165 @default.
- NCIT_C131084 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131084 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131084 NCIT_R176 NCIT_C25939 @default.
- NCIT_C131084 normalizedInformationContent "100" @default.
- NCIT_C131084 referenceCount "1" @default.
- NCIT_C131084 hasExactSynonym "11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency" @default.
- NCIT_C131084 hasExactSynonym "Cortisone Reductase Deficiency Type 2" @default.
- NCIT_C131084 inSubset NCIT_C118467 @default.
- NCIT_C131084 inSubset NCIT_C90259 @default.
- NCIT_C131084 type Class @default.
- NCIT_C131084 isDefinedBy ncit.owl @default.
- NCIT_C131084 label "11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency" @default.
- NCIT_C131084 subClassOf Bb6cba26671eb11ae9ebfed41ddf5530d @default.
- NCIT_C131084 subClassOf Bcbc94c58dd901a2650f63b174fbba3e8 @default.
- NCIT_C131084 subClassOf NCIT_C131084 @default.
- NCIT_C131084 subClassOf NCIT_C27551 @default.
- NCIT_C131084 subClassOf NCIT_C27565 @default.
- NCIT_C131084 subClassOf NCIT_C2991 @default.
- NCIT_C131084 subClassOf NCIT_C3009 @default.
- NCIT_C131084 subClassOf NCIT_C3235 @default.
- NCIT_C131084 subClassOf NCIT_C34816 @default.
- NCIT_C131084 subClassOf NCIT_C53529 @default.
- NCIT_C131084 subClassOf NCIT_C53531 @default.
- NCIT_C131084 subClassOf NCIT_C53547 @default.
- NCIT_C131084 subClassOf NCIT_C7057 @default.