| Label | Id | |
|---|---|---|
| renal dysplasia retinal aplasia | 17842 | |
| nephronophthisis with retinal dystrophy | 17842 | |
| congenital bronchopulmonary sequestration | 17843 | |
| congenital pulmonary sequestration | 17843 | |
| autosomal dominant spastic ataxia | 17846 | |
| autosomal recessive spastic ataxia | 17847 | |
| Loken Senior syndrome | 17842 | |
| Senior Loken syndrome | 17842 | |
| fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys | 17849 | |
| Moyamoya disease type 2 | 11784 | |
| autoimmune disease with skin involvement | 17841 |