| Label | Id | |
|---|---|---|
| neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation | 14700.0 | |
| SIN3A-related intellectual disability syndrome due to a point mutation | 44700.0 | |
| proteasome-associated autoinflammatory syndrome 2 | 54700.0 | |
| parotid gland cancer | 4700.0 |