| Label | Id | |
|---|---|---|
| Aase-Smith syndrome 1 | 7839 | |
| corneal type 1 macular dystrophy | C537834 | |
| distal deletion 11q | 7838 | |
| distal monosomy 11q | 7838 | |
| telomeric deletion 11q | 7838 | |
| familial thoracic 3 aortic aneurysm | C537783 | |
| optic atrophy 7 | C567833 | |
| classic 21-OHD CAH, salt wasting form | 17839 | |
| AORTIC VALVE DISEASE 3 | 32783 | |
| lymphocytic variant HES | 17835 | |
| Aase-Smith syndrome I | 7839 | |
| groenouw type II corneal dystrophy | C537834 | |
| Jacobsen syndrome; JBS | http://purl.obolibrary.org/obo/MONDO_0007838 | |
| hyperpyrexia, malignant;MH KING syndrome, included | 7783 | |
| CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | 20783 |