46, xy disorder of sex development
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| 46, XY Disorders of Sex Development | C2751824 | CYP11A1 | 11502818 |
| NR5A1 | |||
| LHCGR | 19887492, 7719343 | ||
| 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 752 | HSD17B3 | |
| 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | 753 | SRD5A2 | |
| 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | 90796 | CYB5A | |
| CYP17A1 | |||
| 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency | 443087 | AKR1C2 | |
| AKR1C4 |