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