| Label | Id | |
|---|---|---|
| Leber congenital amaurosis 3 | 0011415 | |
| Duane retraction syndrome 2 | 0011444 | |
| Leber congenital amaurosis 4 | 0011458 | |
| Leber congenital amaurosis 5 | 0011473 | |
| Wolfram syndrome 2 | 0011502 | |
| Bardet-Biedl syndrome 6 | 0011523 | |
| Senior-Loken syndrome 4 | 0011756 | |
| Moyamoya disease 2 | 0011784 | |
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | 0011898 | |
| Joubert syndrome 2 | 0011963 | |
| Joubert syndrome 3 | 0012078 | |
| Bruck syndrome 2 | 0012217 | |
| Senior-Loken syndrome 5 | 0012225 | |
| Noonan syndrome 3 | 0012371 | |
| Aicardi-Goutieres syndrome 2 | 0012429 |