Additional Disease Briefs

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congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Also known as: 3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF, 3-Beta-HSD deficiency, 3-Beta-hydroxysteroid dehydrogenase deficiency, 3-beta HSD deficiency, 3b-hydroxysteroid dehydrogenase deficiency, CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency, HSD3B deficiency, adrenal hyperplasia 2, adrenal hyperplasia II, adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency, adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency, type II 3-beta-hydroxysteroid dehydrogenase deficiency


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Also known as: POR deficiency, PORD, adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency, congenital adrenal hyperplasia due to cytochrome POR deficiency, disordered steroidogenesis due to POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase, disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency


Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

Also known as: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome, XY sex reversal-adrenal failure, XY sex reversal-adrenal failure syndrome, adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete, adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, cholesterol side-chain cleavage deficiency, p450scc deficiency