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- NCIT_C131134 IAO_0000115 "A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock." @default.
- NCIT_C131134 NCIT_NHC0 "C131134" @default.
- NCIT_C131134 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131134 NCIT_P108 "Salt-Wasting 21-Hydroxylase Deficiency" @default.
- NCIT_C131134 NCIT_P208 "CL514183" @default.
- NCIT_C131134 NCIT_P322 "NICHD" @default.
- NCIT_C131134 NCIT_P325 "A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity, resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess, causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and, if untreated, hyponatremia, hyperkalemia, and shock." @default.
- NCIT_C131134 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131134 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131134 NCIT_R176 NCIT_C25939 @default.
- NCIT_C131134 NCIT_R176 NCIT_C26511 @default.
- NCIT_C131134 NCIT_R176 NCIT_C40070 @default.
- NCIT_C131134 normalizedInformationContent "100" @default.
- NCIT_C131134 referenceCount "1" @default.
- NCIT_C131134 hasExactSynonym "Salt-Wasting 21-Hydroxylase Deficiency" @default.
- NCIT_C131134 hasExactSynonym "Salt-wasting 21-OHD" @default.
- NCIT_C131134 inSubset NCIT_C118467 @default.
- NCIT_C131134 inSubset NCIT_C90259 @default.
- NCIT_C131134 type Class @default.
- NCIT_C131134 isDefinedBy ncit.owl @default.
- NCIT_C131134 label "Salt-Wasting 21-Hydroxylase Deficiency" @default.
- NCIT_C131134 subClassOf NCIT_C131087 @default.
- NCIT_C131134 subClassOf NCIT_C131134 @default.
- NCIT_C131134 subClassOf NCIT_C27551 @default.
- NCIT_C131134 subClassOf NCIT_C27565 @default.
- NCIT_C131134 subClassOf NCIT_C2991 @default.
- NCIT_C131134 subClassOf NCIT_C3009 @default.
- NCIT_C131134 subClassOf NCIT_C53529 @default.
- NCIT_C131134 subClassOf NCIT_C53531 @default.
- NCIT_C131134 subClassOf NCIT_C7057 @default.