| Label | Id | |
|---|---|---|
| Loeys-Dietz syndrome type 3 | 13426 | |
| Loeys-Dietz syndrome, type 3 | 13426 | |
| distal monosomy type 3p | 13424 | |
| retinitis pigmentosa type 40 | 13429 | |
| Loeys-Dietz syndrome with osteoarthritis | 13426 | |
| C8 deficiency type I | 13422 | |
| C8 deficiency type II | 13421 | |
| CDG syndrome type IIf | 11342 |