| Label | Id | |
|---|---|---|
| Loeys-Dietz syndrome, type 1C | 13426 | |
| Loeys-Dietz syndrome, type 1C (formerly) | 13426 | |
| Loeys-Dietz syndrome, type 1C, formerly | 13426 | |
| C8 deficiency type I | 13422 | |
| retinitis pigmentosa type 40 | 13429 | |
| C8 deficiency type II | 13421 | |
| CDG syndrome type IIf | 11342 | |
| Loeys-Dietz syndrome with osteoarthritis | 13426 |