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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