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- Bb0db5d6663c2a7f5bd32a9ff8eaf4cd7 NCIT_P378 "NCI" @default.
- Bb0db5d6663c2a7f5bd32a9ff8eaf4cd7 type Axiom @default.
- Bb0db5d6663c2a7f5bd32a9ff8eaf4cd7 annotatedProperty IAO_0000115 @default.
- Bb0db5d6663c2a7f5bd32a9ff8eaf4cd7 annotatedSource NCIT_C52318 @default.
- Bb0db5d6663c2a7f5bd32a9ff8eaf4cd7 annotatedTarget "Human CYP11A1 wild-type allele is located within 15q23-q24 and is approximately 30 kb in length. This allele, which encodes cytochrome P450 11A1, mitochondrial protein, is involved in steroid synthesis. Certain allelic variants of the CYP11A1 gene result in 17-alpha-hydroxylase/17,20-lyase deficiency. Defects in this gene cause congenital adrenal insufficiency and congenital lipoid adrenal hyperplasia." @default.