46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
MONDO:0003847
hereditary disease
is_a
MONDO:0020040
46 XY differences of sex development
is_a
17 Beta HSD3 deficiency
exact
17 alpha KSR deficiency
related
17 alpha ketosteroid reductase deficiency of testis
related
17 beta HSD3 deficiency
exact
17 beta hydroxysteroid dehydrogenase III deficiency
related
17-beta hydroxysteroid dehydrogenase 3 deficiency
related
17-beta-hydroxysteroid dehydrogenase 3 deficiency
exact
17-ketoreductase deficiency
exact
17-ketosteroidreductase deficiency
exact
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
exact
Male pseudoherma-phroditism with gynecomastia
related
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
exact
neutral 17 beta hydroxysteroid oxidoreductase deficiency
related
SPAC4G9.15