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C129301Level 10

Adrenal Gland Hyperplasia II

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - 3-Beta-Hydroxysteroid Dehydrogenase Deficiency - Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency - HSDB

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