| 病名 |
| Achromatopsia-2 (色覚異常2) |
| Anhidrotic ectodermal dysplasia (無汗性外胚葉形成異常症) |
| Coat colour, brown |
| Coat colour, white spotting, KIT-related |
| Dwarfism, pituitary (下垂体性矮小症) |
| Haemophilia A (血友病A) |
| Leukocyte adhesion deficiency, type III (白血球粘着不全症タイプIII) |
| Malignant hyperthermia (悪性高熱症) |
| Mucopolysaccharidosis VII (ムコ多糖症VII型) |
| Multidrug resistance 1 (多剤耐性) |
| Renal cystadenocarcinoma and nodular dermatofibrosis (腎嚢胞腺癌 結節性皮膚線維腫症) |
| XX testicular DSD (Disorder of Sexual Development) (XX精巣性性分化異常症) |
