序號(hào)
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中文名稱
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英文名稱
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1
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21-羥化酶缺乏癥
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21-Hydroxylase Deficiency
|
2
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白化病
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Albinism
|
3
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Alport?綜合征
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Alport Syndrome
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4
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肌萎縮側(cè)索硬化
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Amyotrophic Lateral Sclerosis
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5
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Angelman?氏癥候群(天使綜合征)
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Angelman Syndrome
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6
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精氨酸酶缺乏癥
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Arginase Deficiency
|
7
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熱納綜合征(窒息性胸腔失養(yǎng)癥)
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Asphyxiating Thoracic Dystrophy
(Jeune Syndrome)
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8
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非典型溶血性尿毒癥
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Atypical Hemolytic Uremic Syndrome
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9
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自身免疫性腦炎
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Autoimmune Encephalitis
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10
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自身免疫性垂體炎
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Autoimmune Hypophysitis
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11
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自身免疫性胰島素受體病
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Autoimmune Insulin Receptopathy
(Type B insulin resistance)
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12
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β-酮硫解酶缺乏癥
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Beta-ketothiolase Deficiency
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13
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生物素酶缺乏癥
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Biotinidase Deficiency
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14
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心臟離子通道病
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Cardic Ion Channelopathies
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15
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原發(fā)性肉堿缺乏癥
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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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腓骨肌萎縮癥
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Charcot-Marie-Tooth Disease
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18
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瓜氨酸血癥
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Citrullinemia
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19
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先天性腎上腺發(fā)育不良
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Congenital Adrenal Hypoplasia
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20
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先天性高胰島素性低血糖血癥
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Congenital Hyperinsulinemic Hypoglycemia
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21
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先天性肌無(wú)力綜合征
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Congenital Myasthenic Syndrome
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22
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先天性肌強(qiáng)直(非營(yíng)養(yǎng)不良性肌強(qiáng)直綜合征)
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Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
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23
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先天性脊柱側(cè)彎
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Congenital Scoliosis
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24
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冠狀動(dòng)脈擴(kuò)張病
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Coronary Artery Ectasia
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25
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先天性純紅細(xì)胞再生障礙性貧血
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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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家族性地中海熱
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Familial Mediterranean Fever
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29
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范可尼貧血
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Fanconi Anemia
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30
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半乳糖血癥
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Galactosemia
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31
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戈謝病
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Gaucher’s Disease
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32
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全身型重癥肌無(wú)力
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Generalized Myasthenia Gravis
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33
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Gitelman?綜合征
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Gitelman Syndrome
|
34
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戊二酸血癥I型
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Glutaric Acidemia Type I
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35
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糖原累積?。↖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?fàn)詈俗冃?
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Hepatolenticular Degeneration(Wilson Disease)
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38
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遺傳性血管性水腫
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Hereditary Angioedema (HAE)
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39
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遺傳性大皰性表皮松解癥
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Hereditary Epidermolysis Bullosa
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40
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遺傳性果糖不耐受癥
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Hereditary Fructose Intolerance
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41
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遺傳性低鎂血癥
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Hereditary Hypomagnesemia
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42
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遺傳性多發(fā)腦梗死性癡呆
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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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遺傳性痙攣性截癱
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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癥
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Holocarboxylase Synthetase Deficiency
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45
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同型半胱氨酸血癥
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Homocysteinemia
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46
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純合子家族性高膽固醇血癥
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Homozygous Hypercholesterolemia
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47
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亨廷頓舞蹈病
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Huntington Disease
|
48
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HHH綜合征
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Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome
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49
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高苯丙氨酸血癥
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Hyperphenylalaninemia
|
50
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低堿性磷酸酶血癥
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Hypophosphatasia
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51
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低磷性佝僂病
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Hypophosphatemic Rickets
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52
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特發(fā)性心肌病
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Idiopathic Cardiomyopathy
|
53
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特發(fā)性低促性腺激素性性腺功能減退癥
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Idiopathic Hypogonadotropic Hypogonadism
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54
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特發(fā)性肺動(dòng)脈高壓
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Idiopathic Pulmonary Arterial Hypertension
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55
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特發(fā)性肺纖維化
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Idiopathic Pulmonary Fibrosis
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56
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IgG4相關(guān)性疾病
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IgG4 related Disease
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57
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先天性膽汁酸合成障礙
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Inborn Errors of Bile Acid Synthesis
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58
|
異戊酸血癥
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Isovaleric Acidemia
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59
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卡爾曼綜合征
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Kallmann Syndrome
|
60
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朗格漢斯組織細(xì)胞增生癥
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Langerhans Cell Histiocytosis
|
61
|
萊倫氏綜合征
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Laron Syndrome
|
62
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Leber遺傳性視神經(jīng)病變
|
Leber Hereditary Optic Neuropathy
|
63
|
長(zhǎng)鏈3-羥酰基輔酶A脫氫酶缺乏癥
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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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賴氨酸尿蛋白不耐受癥
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Lysinuric Protein Intolerance
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66
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溶酶體酸性脂肪酶缺乏癥
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Lysosomal Acid Lipase Deficiency
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67
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楓糖尿癥
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Maple Syrup Urine Disease
|
68
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馬凡綜合征
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Marfan Syndrome
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69
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McCune-Albrigh綜合征
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McCune-Albright Syndrome
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70
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中鏈?;o酶A脫氫酶缺乏癥
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Medium Chain Acyl-CoA Dehydrogenase Deficiency
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71
|
甲基丙二酸血癥
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Methylmalonic Academia
|
72
|
線粒體腦肌病
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Mitochodrial Encephalomyopathy
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73
|
黏多糖貯積癥
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Mucopolysaccharidosis
|
74
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多灶性運(yùn)動(dòng)神經(jīng)病
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Multifocal Motor Neuropathy
|
75
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多種酰基輔酶A脫氫酶缺乏癥
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Multiple Acyl-CoA Dehydrogenase Deficiency
|
76
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多發(fā)性硬化
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Multiple Sclerosis
|
77
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多系統(tǒng)萎縮
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Multiple System Atrophy
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78
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肌強(qiáng)直性營(yíng)養(yǎng)不良
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Myotonic Dystrophy
|
79
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N-乙酰谷氨酸合成酶缺乏癥
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N-acetylglutamate Synthase Deficiency
|
80
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新生兒糖尿病
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Neonatal Diabetes Mellitus
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81
|
視神經(jīng)脊髓炎
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Neuromyelitis Optica
|
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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非綜合征性耳聾
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Non-Syndromic Deafness
|
84
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Noonan綜合征
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Noonan Syndrome
|
85
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鳥(niǎo)氨酸氨甲?;D(zhuǎn)移酶缺乏癥
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Ornithine Transcarbamylase Deficiency
|
86
|
成骨不全癥(脆骨?。?
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Osteogenesis Imperfecta (Brittle Bone Disease)
|
87
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帕金森?。ㄇ嗄晷?、早發(fā)型)
|
Parkinson Disease (Young-onset , Early-onset)
|
88
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陣發(fā)性睡眠性血紅蛋白尿
|
Paroxysmal Nocturnal Hemoglobinuria
|
89
|
黑斑息肉綜合征
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Peutz-Jeghers Syndrome
|
90
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苯丙酮尿癥
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Phenylketonuria
|
91
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POEMS綜合征
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POEMS Syndrome
|
92
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卟啉病
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Porphyria
|
93
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Prader-Willi綜合征
|
Prader-Willi Syndrome
|
94
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原發(fā)性聯(lián)合免疫缺陷
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Primary Combined Immune Deficiency
|
95
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原發(fā)性遺傳性肌張力不全
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Primary Hereditary Dystonia
|
96
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原發(fā)性輕鏈型淀粉樣變
|
Primary Light Chain Amyloidosis
|
97
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進(jìn)行性家族性肝內(nèi)膽汁淤積癥
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Progressive Familial Intrahepatic Cholestasis
|
98
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進(jìn)行性肌營(yíng)養(yǎng)不良
|
Progressive Muscular Dystrophy
|
99
|
丙酸血癥
|
Propionic Acidemia
|
100
|
肺泡蛋白沉積癥
|
Pulmonary Alveolar Proteinosis
|
101
|
肺囊性纖維化
|
Pulmonary Cystic Fibrosis
|
102
|
視網(wǎng)膜色素變性
|
Retinitis Pigmentosa
|
103
|
視網(wǎng)膜母細(xì)胞瘤
|
Retinoblastoma
|
104
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重癥先天性粒細(xì)胞缺乏癥
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Severe Congenital Neutropenia
|
105
|
嬰兒嚴(yán)重肌陣攣性癲癇(Dravet綜合征)
|
Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)
|
106
|
鐮刀型細(xì)胞貧血病
|
Sickle Cell Disease
|
107
|
Silver-Russell綜合征
|
Silver-Russell Syndrome
|
108
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谷固醇血癥
|
Sitosterolemia
|
109
|
脊髓延髓肌萎縮癥(肯尼迪?。?
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Spinal and Bulbar Muscular Atrophy (Kennedy Disease)
|
110
|
脊髓性肌萎縮癥
|
Spinal Muscular Atrophy
|
111
|
脊髓小腦性共濟(jì)失調(diào)
|
Spinocerebellar Ataxia
|
112
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系統(tǒng)性硬化癥
|
Systemic Sclerosis
|
113
|
四氫生物蝶呤缺乏癥
|
Tetrahydrobiopterin Deficiency
|
114
|
結(jié)節(jié)性硬化癥
|
Tuberous Sclerosis Complex
|
115
|
原發(fā)性酪氨酸血癥
|
Tyrosinemia
|
116
|
極長(zhǎng)鏈?;o酶A脫氫酶缺乏癥
|
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
|
117
|
威廉姆斯綜合征
|
Williams Syndrome
|
118
|
濕疹血小板減少伴免疫缺陷綜合征
|
Wiskott-Aldrich Syndrome
|
119
|
X-連鎖無(wú)丙種球蛋白血癥
|
X-linked Agammaglobulinemia
|
120
|
X-連鎖腎上腺腦白質(zhì)營(yíng)養(yǎng)不良
|
X-linked Adrenoleukodystrophy
|
121
|
X-連鎖淋巴增生癥
|
X-linked Lymphoproliferative Disease
|