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- NCIT_C129301 IAO_0000115 "Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia." @default.
- NCIT_C129301 NCIT_NHC0 "C129301" @default.
- NCIT_C129301 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129301 NCIT_P108 "Adrenal Gland Hyperplasia II" @default.
- NCIT_C129301 NCIT_P207 "C0342471" @default.
- NCIT_C129301 NCIT_P322 "Cellosaurus" @default.
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- NCIT_C129301 normalizedInformationContent "100" @default.
- NCIT_C129301 referenceCount "1" @default.
- NCIT_C129301 hasExactSynonym "3-Beta-Hydroxysteroid Dehydrogenase Deficiency" @default.
- NCIT_C129301 hasExactSynonym "Adrenal Gland Hyperplasia II" @default.
- NCIT_C129301 hasExactSynonym "Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency" @default.
- NCIT_C129301 hasExactSynonym "HSDB" @default.
- NCIT_C129301 inSubset NCIT_C165258 @default.
- NCIT_C129301 inSubset NCIT_C192842 @default.
- NCIT_C129301 type Class @default.
- NCIT_C129301 isDefinedBy ncit.owl @default.
- NCIT_C129301 label "Adrenal Gland Hyperplasia II" @default.
- NCIT_C129301 subClassOf B94c78da5531725af3d68e85863673989 @default.
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- NCIT_C129301 subClassOf NCIT_C7057 @default.