|
| 疾病分类 |
疾病 |
引用 |
|
| 神经 |
肌萎缩性脊髓侧索硬化症 |
(31日] |
| 帕金森病 |
(11,22,33,34] |
| 亨廷顿氏舞蹈症 |
(11,35] |
| Lesch-Nyhan综合症 |
(11] |
| Rett综合症 |
(36] |
| 家族性神经异常 |
(37] |
| 如Angelman综合征 |
(38] |
| 二氏综合征 |
(38,39] |
| 弗里德希氏共济失调 |
(40] |
| Rett综合症 |
(41] |
| 精神分裂症 |
(42] |
|
| 免疫系统 |
ADA-SCID |
(11] |
| 硬皮病 |
(43] |
| 原发性免疫缺陷 |
(44] |
|
| 肌肉发达的 |
杜氏肌萎缩症 |
(11] |
| 贝克尔肌肉萎缩症 |
(11] |
| 脊髓性肌肉萎缩症 |
(25] |
| 杜氏肌萎缩症 |
(45] |
|
| 血 |
地中海贫血 |
(46,47] |
| 镰状细胞性贫血 |
(43,47] |
| 慢性骨髓性白血病 |
(48] |
|
| 心 |
长QT综合征 |
(49,50] |
|
| 胰腺 |
青少年糖尿病 |
(11] |
| Shwachman-Bodian-Diamond综合症 |
(11] |
| I型糖尿病 |
(51] |
|
| 皮肤 |
豹综合症 |
(52] |
| 隐性瘠薄,表皮松解大疱 |
(53] |
|
| 骨髓 |
Fanconi贫血 |
(54] |
| 骨髓增生性疾病 |
(54] |
|
| 肝 |
肝脏疾病:a1-antitrypsin不足、家族性高胆固醇血症、糖原storagedisease 1型,Crigler-Najjar酪氨酸血症1型 |
(55] |
|
| 肺 |
肺部疾病:囊性纤维化,a - 1抗胰蛋白酶deficiency-related肺气肿 |
(43] |
|
| 其他(物理和知识的局限性) |
唐氏综合症 |
(11] |
| 投手综合症 |
(44] |
| 戈谢病 |
(11] |
| 脆性X综合征 |
(56] |
|
| 过早老化 |
先天性角化不良 |
(57] |
|
| 眼睛 |
色素性视网膜炎 |
(58] |
| 旋涡状的萎缩 |
(59] |
|
| 牙科 |
吗? |
|
|
|
