| 病名 |
| Achromatopsia-2 (色覚異常2) |
| Alexander disease (アレキサンダー病) |
| Anhidrotic ectodermal dysplasia (無汗性外胚葉形成異常症) |
| Exercise-induced collapse (運動誘発性虚脱) |
| Malignant hyperthermia (悪性高熱症) |
| Menkes disease (メンケス病) |
| Muscular dystrophy, Duchenne type (デュシェンヌ型筋ジストロフィー) |
| Myasthenic syndrome, congenital, COLQ-related (先天性筋無力症候群) |
| Myopathy, centronuclear (中心核ミオパチー) |
| Myotubular myopathy 1 (筋細管ミオパチー1) |
| Narcolepsy (ナルコレプシー) |
| Nasal parakeratosis (鼻不全角化症) |
| Oculoskeletal dysplasia 1 (骨格-眼症 1型) |
| Progressive rod-cone degeneration (進行性杆体-錐体変性) |
| Skeletal dysplasia 2 (SD2) (骨格形成不全2) |
| Wilson disease (ウィルソン病) |
