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- NCIT_C129302 IAO_0000115 "Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH." @default.
- NCIT_C129302 NCIT_NHC0 "C129302" @default.
- NCIT_C129302 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129302 NCIT_P108 "Adrenal Gland Hyperplasia III" @default.
- NCIT_C129302 NCIT_P207 "C2936858" @default.
- NCIT_C129302 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C129302 NCIT_R176 NCIT_C26511 @default.
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- NCIT_C129302 normalizedInformationContent "100" @default.
- NCIT_C129302 referenceCount "1" @default.
- NCIT_C129302 hasExactSynonym "21-Hydroxylase Deficieny" @default.
- NCIT_C129302 hasExactSynonym "Adrenal Gland Hyperplasia III" @default.
- NCIT_C129302 hasExactSynonym "Adrenal Gland Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency" @default.
- NCIT_C129302 hasExactSynonym "CAH1" @default.
- NCIT_C129302 hasExactSynonym "CYP21 Deficiency" @default.
- NCIT_C129302 hasExactSynonym "Congenital Adrenal Hyperplasia 1" @default.
- NCIT_C129302 inSubset NCIT_C165258 @default.
- NCIT_C129302 inSubset NCIT_C192842 @default.
- NCIT_C129302 type Class @default.
- NCIT_C129302 isDefinedBy ncit.owl @default.
- NCIT_C129302 label "Adrenal Gland Hyperplasia III" @default.
- NCIT_C129302 subClassOf B5c8982001955ab2baa8115b071afedf1 @default.
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- NCIT_C129302 subClassOf NCIT_C7057 @default.