Adrenal hyperplasia ii

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.

Disease Alternative Name

adrenal gland hyperplasia ii
adrenal gland hyperplasia
congenital
due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
hsdb
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