Categories: Reproductive system phene

Possible human homologues (MIM numbers): 264300 (trait) , 605573 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0009916: 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Cross-species summary: This is a type of XY difference of sexual development (XY DSD) due to variants in the HSD17B3 gene. "Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production." [ NCIT : C120203 ]

Species in which this phene is found:
dog (Canis lupus familiaris)