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- NCIT_C131085 IAO_0000115 "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.
- NCIT_C131085 NCIT_NHC0 "C131085" @default.
- NCIT_C131085 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C131085 NCIT_P108 "11-Beta-Hydroxylase Deficiency" @default.
- NCIT_C131085 NCIT_P207 "C0268292" @default.
- NCIT_C131085 NCIT_P322 "NICHD" @default.
- NCIT_C131085 NCIT_P325 "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.
- NCIT_C131085 NCIT_R176 NCIT_C16612 @default.
- NCIT_C131085 NCIT_R176 NCIT_C21281 @default.
- NCIT_C131085 NCIT_R176 NCIT_C25939 @default.
- NCIT_C131085 NCIT_R176 NCIT_C26511 @default.
- NCIT_C131085 NCIT_R176 NCIT_C40058 @default.
- NCIT_C131085 normalizedInformationContent "100" @default.
- NCIT_C131085 referenceCount "1" @default.
- NCIT_C131085 hasExactSynonym "11-Beta-Hydroxylase Deficiency" @default.
- NCIT_C131085 inSubset NCIT_C118467 @default.
- NCIT_C131085 inSubset NCIT_C90259 @default.
- NCIT_C131085 type Class @default.
- NCIT_C131085 isDefinedBy ncit.owl @default.
- NCIT_C131085 label "11-Beta-Hydroxylase Deficiency" @default.
- NCIT_C131085 subClassOf B2ecfa49bec08b0eeec795fb8324b5630 @default.
- NCIT_C131085 subClassOf B595103485067bcbaadfea8e17096b8e0 @default.
- NCIT_C131085 subClassOf NCIT_C131085 @default.
- NCIT_C131085 subClassOf NCIT_C27551 @default.
- NCIT_C131085 subClassOf NCIT_C27565 @default.
- NCIT_C131085 subClassOf NCIT_C2991 @default.
- NCIT_C131085 subClassOf NCIT_C3009 @default.
- NCIT_C131085 subClassOf NCIT_C53529 @default.
- NCIT_C131085 subClassOf NCIT_C53531 @default.
- NCIT_C131085 subClassOf NCIT_C7057 @default.