| 病名 |
| Ataxia, spinocerebellar, SPTBN2-related |
| Factor VII deficiency (第VII因子欠損症) |
| Gangliosidosis, GM1 (GM1ガングリオシドーシス) |
| Glaucoma, primary open angle, ADAMTS10-related (原発開放隅角緑内障) |
| Hypocatalasia (低カタラーゼ血症) |
| Intestinal cobalamin malabsorption, CUBN-related (腸コバラミン吸収不良) |
| Myoclonus epilepsy of Lafora (Lafora型ミオクローヌスてんかん) |
| Narcolepsy (ナルコレプシー) |
| Night blindness, congenital stationary |
| Osteogenesis imperfecta, COL1A2-related (骨形成不全症) |
| Pyruvate kinase deficiency of erythrocyte (赤血球ピルビン酸キナーゼ異常症) |
| XX testicular DSD (Disorder of Sexual Development) (XX精巣性性分化異常症) |
