has characteristic
has characteristic
has material basis in germline mutation in
disease has basis in disruption of
disease caused by disruption of
HSD17B3
testosterone 17-beta-dehydrogenase (NADP+) activity
hereditary disease
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
https://github.com/monarch-initiative/mondo/issues/6753
17-beta-hydroxysteroid dehydrogenase 3 deficiency
MONDO:0009916
NCIT:C120203
GARD:5659
neutral 17-Beta-hydroxysteroid oxidoreductase deficiency
17 alpha KSR deficiency
DOID:0112248
OMIM:264300
polycystic ovarian disease due to 17-ketosteroid reductase deficiency
neutral 17 beta hydroxysteroid oxidoreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-Beta hydroxysteroid dehydrogenase 3 deficiency
17-KSR deficiency
Male pseudoherma-phroditism with gynecomastia
17-beta hydroxysteroid dehydrogenase 3 deficiency
17 Beta HSD3 deficiency
17-ketosteroid reductase deficiency of testis
Orphanet:752
17-BETA hydroxysteroid dehydrogenase III deficiency
Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
polycystic ovary syndrome due to 17-ketosteroid reductase deficiency
pseudohermaphroditism, Male, with gynecomastia
17 beta hydroxysteroid dehydrogenase III deficiency
17 beta HSD3 deficiency
MESH:C564868
17-ketosteroidreductase deficiency
Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
MESH:C537805
17 alpha ketosteroid reductase deficiency of testis
SCTID:50658006
17-ketoreductase deficiency
46,XY disorder of sex development
rare