| Label | Id | |
|---|---|---|
| NEDMILEG | 0030837 | |
| spermatogenic failure | 0030869 | |
| Hermansky-Pudlak syndrome | 0030903 | |
| short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 0030953 | |
| Glanzmann's thrombasthenia | 0031332 | |
| hereditary hypercholanemia | 0031446 | |
| ApoA-I and apoC-III deficiency, combined | 0032766 | |
| EKD | 0044202 | |
| carcinoma of liver and intrahepatic biliary tract | 0044791 | |
| liver and intrahepatic biliary tract carcinoma | 0044791 | |
| cribriform carcinoma | 0045059 | |
| PKDYS | 0054835 | |
| ovotesticular DSD | 0100250 | |
| odontochondrodysplasia | 0100325 | |
| Bartter syndrome, furosemide type | 0100344 |