| Label | Id | |
|---|---|---|
| macular corneal dystrophy, type 1 | 9020 | |
| macular corneal dystrophy, type 2 | 9020 | |
| Limb-girdle muscular dystrophy, type 2e | C535902 | |
| aortic valve disease 2 | 13902 | |
| aortic valve disease 2; AOVD2 | http://purl.obolibrary.org/obo/MONDO_0013902 | |
| segmental odontomaxillary dysplasia | 19029 | |
| SOD | 19029 | |
| porphyria, congenital erythropoietic | 9902 | |
| apparent mineralocorticoid excess | 9025 | |
| lichen planus, familial | 7902 | |
| metaphyseal dysplasia hypertelorism hypospadias | 42902 | |
| brain stem hemangioblastoma | 3902 | |
| open angle glaucomas | D005902 | |
| auriculotemporal nerve injuries | D000080902 | |
| buccal nerve injuries | D000080902 |