序号 | 中文名称 | 英文名称 |
1 | 21-羟化酶缺乏症 | 21-Hydroxylase Deficiency |
2 | 白化病 | Albinism |
3 | Alport 综合征 | Alport Syndrome |
4 | 肌萎缩侧索硬化 | Amyotrophic Lateral Sclerosis |
5 | Angelman 氏症候群（天使综合征） | Angelman Syndrome |
6 | 精氨酸酶缺乏症 | Arginase Deficiency |
7 | 热纳综合征（窒息性胸腔失养症） | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) |
8 | 非典型溶血性尿毒症 | Atypical Hemolytic Uremic Syndrome |
9 | 自身免疫性脑炎 | Autoimmune Encephalitis |
10 | 自身免疫性垂体炎 | Autoimmune Hypophysitis |
11 | 自身免疫性胰岛素受体病 | Autoimmune Insulin Receptopathy (Type B insulin resistance) |
12 | β-酮硫解酶缺乏症 | Beta-ketothiolase Deficiency |
13 | 生物素酶缺乏症 | Biotinidase Deficiency |
14 | 心脏离子通道病 | Cardic Ion Channelopathies |
15 | 原发性肉碱缺乏症 | Carnitine Deficiency |
16 | Castleman病 | Castleman Disease |
17 | 腓骨肌萎缩症 | Charcot-Marie-Tooth Disease |
18 | 瓜氨酸血症 | Citrullinemia |
19 | 先天性肾上腺发育不良 | Congenital Adrenal Hypoplasia |
20 | 先天性高胰岛素性低血糖血症 | Congenital Hyperinsulinemic Hypoglycemia |
21 | 先天性肌无力综合征 | Congenital Myasthenic Syndrome |
22 | 先天性肌强直（非营养不良性肌强直综合征） | Congenital Myotonia Syndrome
(Non-Dystrophic Myotonia, NDM) |
23 | 先天性脊柱侧弯 | Congenital Scoliosis |
24 | 冠状动脉扩张病 | Coronary Artery Ectasia |
25 | 先天性纯红细胞再生障碍性贫血 | Diamond-Blackfan Anemia |
26 | Erdheim-Chester病 | Erdheim-Chester Disease |
27 | 法布雷病 | Fabry Disease |
28 | 家族性地中海热 | Familial Mediterranean Fever |
29 | 范可尼贫血 | Fanconi Anemia |
30 | 半乳糖血症 | Galactosemia |
31 | 戈谢病 | Gaucher’s Disease |
32 | 全身型重症肌无力 | Generalized Myasthenia Gravis |
33 | Gitelman 综合征 | Gitelman Syndrome |
34 | 戊二酸血症I型 | Glutaric Acidemia Type I |
35 | 糖原累积病（I型、Ⅱ型） | Glycogen Storage Disease (Type I、II） |
36 | 血友病 | Hemophilia |
37 | 肝豆状核变性 | Hepatolenticular Degeneration(Wilson Disease) |
38 | 遗传性血管性水肿 | Hereditary Angioedema (HAE) |
39 | 遗传性大疱性表皮松解症 | Hereditary Epidermolysis Bullosa |
40 | 遗传性果糖不耐受症 | Hereditary Fructose Intolerance |
41 | 遗传性低镁血症 | Hereditary Hypomagnesemia |
42 | 遗传性多发脑梗死性痴呆 | Hereditary Multi-infarct Dementia (Cerebral
Autosomal Dominant Arteriopathy with Subcortical
Infarcts and Leukoencephalopathy, CADASIL) |
43 | 遗传性痉挛性截瘫 | Hereditary Spastic Paraplegia |
44 | 全羧化酶合成酶缺乏症 | Holocarboxylase Synthetase Deficiency |
45 | 同型半胱氨酸血症 | Homocysteinemia |
46 | 纯合子家族性高胆固醇血症 | Homozygous Hypercholesterolemia |
47 | 亨廷顿舞蹈病 | Huntington Disease |
48 | HHH综合征 | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome |
49 | 高苯丙氨酸血症 | Hyperphenylalaninemia |
50 | 低碱性磷酸酶血症 | Hypophosphatasia |
51 | 低磷性佝偻病 | Hypophosphatemic Rickets |
52 | 特发性心肌病 | Idiopathic Cardiomyopathy |
53 | 特发性低促性腺激素性性腺功能减退症 | Idiopathic Hypogonadotropic Hypogonadism |
54 | 特发性肺动脉高压 | Idiopathic Pulmonary Arterial Hypertension |
55 | 特发性肺纤维化 | Idiopathic Pulmonary Fibrosis |
56 | IgG4相关性疾病 | IgG4 related Disease |
57 | 先天性胆汁酸合成障碍 | Inborn Errors of Bile Acid Synthesis |
58 | 异戊酸血症 | Isovaleric Acidemia |
59 | 卡尔曼综合征 | Kallmann Syndrome |
60 | 朗格汉斯组织细胞增生症 | Langerhans Cell Histiocytosis |
61 | 莱伦氏综合征 | Laron Syndrome |
62 | Leber遗传性视神经病变 | Leber Hereditary Optic Neuropathy |
63 | 长链3-羟酰基辅酶A脱氢酶缺乏症 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
64 | 淋巴管肌瘤病 | Lymphangioleiomyomatosis (LAM) |
65 | 赖氨酸尿蛋白不耐受症 | Lysinuric Protein Intolerance |
66 | 溶酶体酸性脂肪酶缺乏症 | Lysosomal Acid Lipase Deficiency |
67 | 枫糖尿症 | Maple Syrup Urine Disease |
68 | 马凡综合征 | Marfan Syndrome |
69 | McCune-Albrigh综合征 | McCune-Albright Syndrome |
70 | 中链酰基辅酶A脱氢酶缺乏症 | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
71 | 甲基丙二酸血症 | Methylmalonic Academia |
72 | 线粒体脑肌病 | Mitochodrial Encephalomyopathy |
73 | 黏多糖贮积症 | Mucopolysaccharidosis |
74 | 多灶性运动神经病 | Multifocal Motor Neuropathy |
75 | 多种酰基辅酶A脱氢酶缺乏症 | Multiple Acyl-CoA Dehydrogenase Deficiency |
76 | 多发性硬化 | Multiple Sclerosis |
77 | 多系统萎缩 | Multiple System Atrophy |
78 | 肌强直性营养不良 | Myotonic Dystrophy |
79 | N-乙酰谷氨酸合成酶缺乏症 | N-acetylglutamate Synthase Deficiency |
80 | 新生儿糖尿病 | Neonatal Diabetes Mellitus |
81 | 视神经脊髓炎 | Neuromyelitis Optica |
82 | 尼曼匹克病 | Niemann-Pick Disease |
83 | 非综合征性耳聋 | Non-Syndromic Deafness |
84 | Noonan综合征 | Noonan Syndrome |
85 | 鸟氨酸氨甲酰基转移酶缺乏症 | Ornithine Transcarbamylase Deficiency |
86 | 成骨不全症（脆骨病） | Osteogenesis Imperfecta (Brittle Bone Disease) |
87 | 帕金森病（青年型、早发型） | Parkinson Disease (Young-onset , Early-onset) |
88 | 阵发性睡眠性血红蛋白尿 | Paroxysmal Nocturnal Hemoglobinuria |
89 | 黑斑息肉综合征 | Peutz-Jeghers Syndrome |
90 | 苯丙酮尿症 | Phenylketonuria |
91 | POEMS综合征 | POEMS Syndrome |
92 | 卟啉病 | Porphyria |
93 | Prader-Willi综合征 | Prader-Willi Syndrome |
94 | 原发性联合免疫缺陷 | Primary Combined Immune Deficiency |
95 | 原发性遗传性肌张力不全 | Primary Hereditary Dystonia |
96 | 原发性轻链型淀粉样变 | Primary Light Chain Amyloidosis |
97 | 进行性家族性肝内胆汁淤积症 | Progressive Familial Intrahepatic Cholestasis |
98 | 进行性肌营养不良 | Progressive Muscular Dystrophy |
99 | 丙酸血症 | Propionic Acidemia |
100 | 肺泡蛋白沉积症 | Pulmonary Alveolar Proteinosis |
101 | 肺囊性纤维化 | Pulmonary Cystic Fibrosis |
102 | 视网膜色素变性 | Retinitis Pigmentosa |
103 | 视网膜母细胞瘤 | Retinoblastoma |
104 | 重症先天性粒细胞缺乏症 | Severe Congenital Neutropenia |
105 | 婴儿严重肌阵挛性癫痫(Dravet综合征) | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) |
106 | 镰刀型细胞贫血病 | Sickle Cell Disease |
107 | Silver-Russell综合征 | Silver-Russell Syndrome |
108 | 谷固醇血症 | Sitosterolemia |
109 | 脊髓延髓肌萎缩症（肯尼迪病） | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) |
110 | 脊髓性肌萎缩症 | Spinal Muscular Atrophy |
111 | 脊髓小脑性共济失调 | Spinocerebellar Ataxia |
112 | 系统性硬化症 | Systemic Sclerosis |
113 | 四氢生物蝶呤缺乏症 | Tetrahydrobiopterin Deficiency |
114 | 结节性硬化症 | Tuberous Sclerosis Complex |
115 | 原发性酪氨酸血症 | Tyrosinemia |
116 | 极长链酰基辅酶A脱氢酶缺乏症 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
117 | 威廉姆斯综合征 | Williams Syndrome |
118 | 湿疹血小板减少伴免疫缺陷综合征 | Wiskott-Aldrich Syndrome |
119 | X-连锁无丙种球蛋白血症 | X-linked Agammaglobulinemia |
120 | X-连锁肾上腺脑白质营养不良 | X-linked Adrenoleukodystrophy |
121 | X-连锁淋巴增生症 | X-linked Lymphoproliferative Disease |
