| Label | Id | |
|---|---|---|
| Bardet-Biedl syndrome 20 | 23670 | |
| retinitis pigmentosa 31 | 12367 | |
| retinitis pigmentosa 31; RP31 | http://purl.obolibrary.org/obo/MONDO_0012367 | |
| mosaic trisomy 21 | C536794 | |
| sclerosteosis type 2 | 13679 | |
| chromosome ring 22 | C536795 | |
| trisomy mosaic 22 | C536796 | |
| mosaic monosome 22 | C536798 | |
| trisomy chromosome 22 | C536799 | |
| oculopharyngodistal myopathy 3 | 23671 | |
| X-linked, syndromic 6 mental retardation | C536708 | |
| Aicardi-Goutieres syndrome 7 | 14367 | |
| zeta-associated protein 70 deficiency | C536722 | |
| X-linked, syndromic 4 mental retardation | C536703 | |
| spermatogenic failure 45 | 33671 |