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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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苯丙酮尿症
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Phenylketonuria (PKU)
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2
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肝豆状核变性
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Wilson disease (WD)
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3
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杜氏肌营养不良症
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Duchenne muscular dystrophy (DMD)
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4
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糖原累积病
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Glycogen storage disease (GSD)
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5
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粘多糖贮积症
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Mucopolysaccharidosis (MPS)
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6
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范可尼贫血
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Fanconi anemia (FA)
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7
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血友病
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Hemophilia
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8
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戈谢病
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Gaucher disease (GD)
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9
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先天性肾上腺皮质增生症
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Congenital adrenal hyperplasia (CAH)
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10
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原发性肉碱缺乏症
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Primary carnitine deficiency (PCD)
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11
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甲基丙二酸血症
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Methylmalonic academia (MA)
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12
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大疱性表皮松解症
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Epidermolysisbullosa (EB)
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13
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遗传性进行性肾炎（Alport综合征）
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Alport syndrome
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14
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马凡综合征
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Marfan syndrome
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15
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亨廷顿舞蹈症
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Huntington disease (HD)
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16
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脊髓性肌萎缩症
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Spinal muscular atrophy (SMA)
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17
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半乳糖血症
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Galactosemia
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18
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脊髓小脑性共济失调
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Spinocerebellar ataxia (SCA)
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19
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先天性高胰岛素性低血糖血症
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Familial hyperinsulinemic hypoglycemia (HHF)
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20
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成骨不全症（脆骨病）
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Osteogenesisimperfecta (OI)
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21
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常染色体隐性多囊肾病
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Autosomal recessive polycystic kidney disease (ARPKD)
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22
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软骨发育不全
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Achondroplasia
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23
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脊髓延髓肌肉萎缩症（肯尼迪氏症）
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Spinal and bulbar muscular atrophy (Kennedy disease)
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24
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枫糖尿症
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Maple syrup urine disease (MSUD)
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25
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尿素循环障碍
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Urea cycle disorder
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26
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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 (WAS)
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27
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白化病
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Albinism
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28
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结节性硬化症
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Tuberous sclerosis complex (TSC)
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29
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法布雷病
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Fabry disease
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30
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雷特综合征
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Rett syndrome
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31
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普拉德—威利综合征
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Prader-Willi syndrome (PWS)
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32
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威廉姆斯综合征
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Williams syndrome (WS)
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33
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小儿X连锁无丙种球蛋白血症
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X-linked agammaglobulinemia (XLA)
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34
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神经纤维瘤
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Neurofibromatosis (NF)
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35
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异戊酸血症
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Isovalericacidemia (IVA)
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36
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β-酮硫解酶缺乏症
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Beta-ketothiolase deficiency
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37
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阵发性睡眠性血红蛋白尿症
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Paroxysmal nocturnal hemoglobinuria (PNH）
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38
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肢带型肌营养不良
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Limb-girdle muscular dystrophy (LGMD)
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39
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尼曼—匹克氏病
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Niemann-Pick disease (NPD)
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40
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戊二酸血症
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Glutaric academia (GA)
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41
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重症联合免疫缺陷
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Severe combined immunodeficiency (SCID)
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42
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酪氨酸血症
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Tyrosinemia
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43
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多发性硬化
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Multiple Sclerosis (MS)
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44
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脂肪酸氧化作用缺陷
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Fatty acid oxidation defect
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45
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家族性痉挛性截瘫
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Hereditary spastic paraplegia (HSP)
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46
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X连锁肾上腺脑白质营养不良
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X-linked adrenoleukodystrophy (XLD)
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47
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努南综合征
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Noonan syndrome (NS)
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48
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瓜氨酸血症
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Citrullinemia
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49
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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
(MCADD)
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50
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特发性肺动脉高压
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Primary Pulmonary Hypertension (PPH)
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51
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肌萎缩侧索硬化症
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Amyotrophic lateral sclerosis (ALS)
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52
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视网膜色素变性症
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Retinitis pigmentosa (RP)
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53
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佩梅病
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Pelizaeus-Merzbacher disease (PMD)
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54
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腓骨肌萎缩症
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Charcot-Marie-Tooth disease (CMT)
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55
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白塞病
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Behçet disease
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56
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克罗恩病
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Crohn''s disease
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57
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热纳综合征
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Asphyxiating Thoracic Dystrophy (Jeune syndrome)
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58
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淋巴管肌瘤病
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Lymphangioleiomyomatosis (LAM)
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59
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肢端肥大症
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Acromegaly
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60
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早发性帕金森病
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Early-onset Parkinson disease
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61
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多发性骨髓瘤
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Multiple myeloma
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62
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掌跖角化症
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Palmoplantarkeratoderma
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63
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生物素酶缺乏症
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Biotinidase deficiency
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64
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原发性慢性肉芽肿病
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Chronic primary granulomatous disease
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65
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先天性角化不良
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Dyskeratosiscongenita
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66
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丙酸血症
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Propionic academia
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67
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四氢生物蝶呤缺乏症
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Tetrahydrobiopterin deficiency
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68
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X-连锁高IgM综合征
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X-linked hyper IgM syndrome
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69
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低碱性磷酸酯酶血症
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Hypophosphatasia
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70
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脆性X染色体综合征
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Fragile X syndrome (FX)
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71
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Leber遗传性视神经病变
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Leber hereditary optic neuropathy (LHON)
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72
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地中海贫血
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Thalassemia
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73
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卡尔曼综合征
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Kallmann syndrome
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74
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天使综合征
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Angelman syndrome (AS)
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75
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视网膜母细胞瘤
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Retinoblastoma
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76
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线粒体脑肌病伴高乳酸血症和脑卒中样发作（MELAS综合征）
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Mitochondrial encephalopathy, lactic acidosis, and
stroke-like episodes (MELAS)
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77
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先天性红细胞生成障碍性贫血
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Congenital dyserythropoietic anemia (CDA)
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78
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生长激素缺乏症
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Growth hormone deficiency
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79
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婴儿严重肌阵挛性癫痫（Dravet综合征）
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Dravet syndrome
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80
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永久性新生儿糖尿病
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Permanent Neonatal Diabetes Mellitus
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81
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体制性肝功能不良性黄疸（Gilbert综合征）
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Gilbert''s syndrome (GS)
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82
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季肋发育不全
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Hypochondroplasia
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83
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非典型溶血性尿毒症综合征
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Atypical hemolytic-uremic syndrome (aHUS)
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84
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朗格汉斯细胞组织细胞增生症
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Pulmonary Langerhans cell histiocytosis (PLCH)
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85
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烟雾病
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Moyamoya disease
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86
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家族性低血钾症
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Familial Hypokalemia
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87
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林岛综合征（VHL综合征）
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Von Hippel–Lindau disease (VHL syndrome)
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88
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硬皮病
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Scleroderma
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89
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红细胞增多症
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Erythocytosis
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90
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先天性肌无力综合征
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Congenital Myasthenic Syndromes (CMS)
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91
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视神经脊髓炎
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Neuromyelitisoptica (NMO)
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92
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遗传性血管性水肿
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Hereditary angioedema (HAE)
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93
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全羧化酶合成酶缺乏症
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Holocarboxylasesynthetase deficiency
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94
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低磷性佝偻病
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Hypophosphatemic rickets
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95
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侏儒综合征
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Laron syndrome
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96
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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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97
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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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98
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卟啉病
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Porphyria
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99
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Aicardi-Goutières综合征
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Aicardi-Goutières syndrome （AGS）
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100
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动脉肝脏发育不良综合征
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Alagille syndrome
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101
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轴前肢端骨发育不全
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Nageracrofacialdysostosis (Preaxialacrodysostosis)
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102
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多发性骨骺发育不良
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Multiple epiphyseal dysplasia
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103
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进行性骨化性肌炎
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Myositis ossificansprogressiva (MOP)
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104
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色素失禁症
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Incontinentiapigmenti
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105
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遗传性果糖不耐受症
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Hereditary fructose intolerance
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106
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无脑回畸形
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Lissencephaly
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107
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竹节状毛发综合征（Netherton综合征）
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Netherton syndrome
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108
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遗传性出血性毛细血管扩张症
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Heriditary hemorrhagic telangiectasia (HHT)
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109
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Rubinstein-Taybi综合征
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Rubinstein-Taybi syndrome
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110
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隐眼—并指（趾）综合征
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Cryptophthalmos-syndactylysyndrom
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111
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指甲髌骨综合征（Turner-Kieser综合征）
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Nail-patella syndrome (Turner-Kieser syndrome)
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112
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谷固醇血症
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Sitosterolemia
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113
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自身免疫性肠病第Ⅰ型
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Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome （IPEX）
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114
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高前列腺素E综合征（巴特综合征）
|
Hyperprostaglandin E syndrome (Bartter syndrome)
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115
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先天性Cajal氏间质细胞增生合并肠道神经元发育异常
|
Congenital Interstitial Cell of Cajal Hyperplasia with
Neuronal
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116
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先天性胆酸合成障碍
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Inborn errors of bile acid synthesis
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117
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弗里曼—谢尔登氏综合征
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Freeman-Sheldon syndrome (FSS)
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118
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躯干发育异常
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Campomelic dysplasia（CD）
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119
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Lennox-Gastaut综合征
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Lennox-Gastaut syndrome (LGS)
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120
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神经病—共济失调—色素性视网膜炎综合征
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Neuropathy - ataxia, and retinitis pigmentosa (NARP syndrome)
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121
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肌强制性营养不良
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Myotonic dystrophy (MD)
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122
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面肩胛肱型肌营养不良症
|
Facioscapulohumeral muscular dystrophy
|
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123
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共济失调—毛细血管扩张症
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Ataxia-telangiectasia (AT)
|
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124
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低血钾型周期性麻痹
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Hypokalemic periodic paralysis
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125
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线粒体肌病
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Nemaline myopathy
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126
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再生障碍性贫血
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Aregenerative anemia
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127
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高苯丙氨酸血症
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Hyperphenylalaninemia
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128
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特纳综合征
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Turner syndrome
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129
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X联锁鱼鳞病
|
Recessive X-linked ichthyosis
|
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130
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镰刀型细胞贫血症
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Sickle cell disease
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131
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骨髓增生异常综合征
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Myelodysplastic syndromes (MDS)
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132
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歌舞伎面谱综合征
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Kabuki syndrome
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133
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假性软骨发育不全
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Pseudoachondroplasia
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134
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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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135
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新生儿呼吸窘迫综合征
|
Neonatal respiratory distress syndrome
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136
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囊性纤维化
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Cystic fibrosis (CF)
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137
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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)
|
|
138
|
Gitelman综合征
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Gitelman syndrome
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|
139
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Joubert综合征
|
Joubert syndrome
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|
140
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McCune-Albright综合征
|
McCune-Albright syndrome (MAS)
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|
141
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家族性高胆固醇血症
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Familial hyperchylomicronemia （FH）
|
|
142
|
黑斑息肉综合征
|
Peutz-Jeghers syndrome (PJS)
|
|
143
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庞贝氏症
|
Pompe disease
|
|
144
|
腹膜假黏液瘤
|
Pseudomyxoma peritone (PMP)
|
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145
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克氏综合征
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Klinefelter syndrome
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146
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重症肌无力
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Myasthenia gravis (MG)
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|
147
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猫叫综合征（5P-综合征）
|
cri-du-chat syndrome (5p-syndrome)
|