| 病名 |
| Collie eye anomaly (コリーアイ) |
| Deafness, adult-onset |
| Dental hypomineralization (無機質減少症) |
| Exercise-induced collapse (運動誘発性虚脱) |
| Intestinal cobalamin malabsorption, CUBN-related (腸コバラミン吸収不良) |
| Multidrug resistance 1 (多剤耐性) |
| Neuronal ceroid lipofuscinosis, 5 (神経セロイドリポフスチン症5) |
| Neuropathy, sensory (感覚性ニューロパチー) |
| Polyneuropathy (多発ニューロパシー) |
| XX testicular DSD (Disorder of Sexual Development) (XX精巣性性分化異常症) |
