Disease association ontology term - MONDO:0009916 - 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Term summary
- ID
- MONDO:0009916
- Name
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- Ontology or CV name
- Disease association
- Definition
- Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
