Rare Disease Library

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

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

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital bile acid synthesis defect type 2

Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2

Dopamine beta-hydroxylase deficiency

DBH deficiency

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Xanthinuria type I

XDH deficiency · XO deficiency