46,xy disorder of sex development
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 17-BETA-HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY | HSD17B3 | Unknown | — | GenCC | |
| 46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY | SRD5A2 | Unknown | GWAS catalog | ||
| 46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY | CYB5A | Unknown | GWAS catalog | ||
| CYP17A1 | Unknown | Disgenet | |||
| 46,XY DISORDER OF SEX DEVELOPMENT DUE TO TESTICULAR 17,20-DESMOLASE DEFICIENCY | AKR1C2 | Causal | GWAS catalog | ||
| AKR1C4 | Unknown | — | GenCC | ||
| 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME | DHH | Causal | GWAS catalog |