| DISEASE NAME | 46,XY partial gonadal dysgenesis |
| DISEASE CATEGORY (ICD10) | Congenital malformations, deformations and chromosomal abnormalities |
| DISEASE ID (ICD10) | Q56.1 |
| DISEASE ID (OMIM) | 616067; 616425; 154230; 300018; 612965; 613762; 615542 |
| 2 combinations linked to 251510 | OLI400; OLI401 |
| 2 gene combinations linked to 251510 | NR5A1; ZFPM2; NR5A1; SRD5A2 |
| ORPHANET ID | 251510 |