|
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 |
