| 病名 |
| Chondrodysplasia, disproportionate short-limbed (軟骨異形成症) |
| Early retinal degeneration (早発型網膜変性) |
| Glaucoma, primary open angle, ADAMTS10-related (原発開放隅角緑内障) |
| Progressive rod-cone degeneration (進行性杆体-錐体変性) |
| Rod dysplasia |
| XX testicular DSD (Disorder of Sexual Development) (XX精巣性性分化異常症) |
