| Label | Id | |
|---|---|---|
| Timothy syndrome | 0010979 | |
| Brugada syndrome 1 | 0011001 | |
| Naxos disease | 0011017 | |
| Potocki-Shaffer syndrome | 0011022 | |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy | 0011132 | |
| Quebec platelet disorder | 0011136 | |
| Ehlers-Danlos syndrome, musculocontractural type | 0011142 | |
| Joubert syndrome 17 | 0013824 | |
| hemimelia | 0016240 | |
| Usher syndrome type 2 | 0016484 | |
| Usher syndrome type 3 | 0016485 | |
| ocular albinism | 0017304 | |
| hemophilia | 0018660 | |
| retinitis pigmentosa | 0019200 | |
| Usher syndrome | 0019501 |