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序號

中文名稱

英文名稱

1

21-羥化酶缺乏癥

21-Hydroxylase Deficiency

2

白化病

Albinism

3

Alport綜合征

Alport Syndrome

4

肌萎縮側(cè)索硬化

Amyotrophic Lateral Sclerosis

5

Angelman氏癥候群（天使綜合征）

Angelman Syndrome

6

精氨酸酶缺乏癥

Arginase Deficiency

7

熱納綜合征（窒息性胸腔失養(yǎng)癥）

Asphyxiating Thoracic Dystrophy

8

非典型溶血性尿毒癥

Atypical Hemolytic Uremic Syndrome

9

自身免疫性腦炎

Autoimmune Encephalitis

10

自身免疫性垂體炎

Autoimmune Hypophysitis

11

自身免疫性胰島素受體病

Autoimmune Insulin Receptopathy

12

β-酮硫解酶缺乏癥

Beta-ketothiolase Deficiency

13

生物素酶缺乏癥

Biotinidase Deficiency

14

心臟離子通道病

Cardic Ion Channelopathies

15

原發(fā)性肉堿缺乏癥

Carnitine Deficiency

16

Castleman病

Castleman Disease

17

腓骨肌萎縮癥

Charcot-Marie-Tooth Disease

18

瓜氨酸血癥

Citrullinemia

19

先天性腎上腺發(fā)育不良

Congenital Adrenal Hypoplasia

20

先天性高胰島素性低血糖血癥

Congenital Hyperinsulinemic Hypoglycemia

21

先天性肌無力綜合征

Congenital Myasthenic Syndrome

22

先天性肌強直（非營養(yǎng)不良性肌強直綜合征）

Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)

23

先天性脊柱側(cè)彎

Congenital Scoliosis

24

冠狀動脈擴張病

Coronary Artery Ectasia

25

先天性純紅細(xì)胞再生障礙性貧血

Diamond-Blackfan Anemia

26

Erdheim-Chester病

Erdheim-Chester Disease

27

法布雷病

Fabry Disease

28

家族性地中海熱

Familial Mediterranean Fever

29

范可尼貧血

Fanconi Anemia

30

半乳糖血癥

Galactosemia

31

戈謝病

Gaucher’s Disease

32

全身型重癥肌無力

Generalized Myasthenia Gravis

33

Gitelman綜合征

Gitelman Syndrome

34

戊二酸血癥I型

Glutaric Acidemia Type I

35

糖原累積?。↖型、Ⅱ型）

Glycogen Storage Disease (Type I、II）

36

血友病

Hemophilia

37

肝豆?fàn)詈俗冃?/span>

Hepatolenticular Degeneration(Wilson Disease)

38

遺傳性血管性水腫

Hereditary Angioedema (HAE)

39

遺傳性大皰性表皮松解癥

Hereditary Epidermolysis Bullosa

40

遺傳性果糖不耐受癥

Hereditary Fructose Intolerance

41

遺傳性低鎂血癥

Hereditary Hypomagnesemia

42

遺傳性多發(fā)腦梗死性癡呆

Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL)

43

遺傳性痙攣性截癱

Hereditary Spastic Paraplegia

44

全羧化酶合成酶缺乏癥

Holocarboxylase Synthetase Deficiency

45

同型半胱氨酸血癥

Homocysteinemia

46

純合子家族性高膽固醇血癥

Homozygous Hypercholesterolemia

47

亨廷頓舞蹈病

Huntington Disease

48

HHH綜合征

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

49

高苯丙氨酸血癥

Hyperphenylalaninemia

50

低堿性磷酸酶血癥

Hypophosphatasia

51

低磷性佝僂病

Hypophosphatemic Rickets

52

特發(fā)性心肌病

Idiopathic Cardiomyopathy

53

特發(fā)性低促性腺激素性性腺功能減退癥

Idiopathic Hypogonadotropic Hypogonadism

54

特發(fā)性肺動脈高壓

Idiopathic Pulmonary Arterial Hypertension

55

特發(fā)性肺纖維化

Idiopathic Pulmonary Fibrosis

56

IgG4相關(guān)性疾病

IgG4 related Disease

57

先天性膽汁酸合成障礙

Inborn Errors of Bile Acid Synthesis

58

異戊酸血癥

Isovaleric Acidemia

59

卡爾曼綜合征

Kallmann Syndrome

60

朗格漢斯組織細(xì)胞增生癥

Langerhans Cell Histiocytosis

61

萊倫氏綜合征

Laron Syndrome

62

Leber遺傳性視神經(jīng)病變

Leber Hereditary Optic Neuropathy

63

長鏈3-羥?；o酶A脫氫酶缺乏癥

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

64

淋巴管肌瘤病

Lymphangioleiomyomatosis (LAM)

65

賴氨酸尿蛋白不耐受癥

Lysinuric Protein Intolerance

66

溶酶體酸性脂肪酶缺乏癥

Lysosomal Acid Lipase Deficiency

67

楓糖尿癥

Maple Syrup Urine Disease

68

馬凡綜合征

Marfan Syndrome

69

McCune-Albrigh綜合征

McCune-Albright Syndrome

70

中鏈酰基輔酶A脫氫酶缺乏癥

Medium Chain Acyl-CoA Dehydrogenase Deficiency

71

甲基丙二酸血癥

Methylmalonic Academia

72

線粒體腦肌病

Mitochodrial Encephalomyopathy

73

黏多糖貯積癥

Mucopolysaccharidosis

74

多灶性運動神經(jīng)病

Multifocal Motor Neuropathy

75

多種?；o酶A脫氫酶缺乏癥

Multiple Acyl-CoA Dehydrogenase Deficiency

76

多發(fā)性硬化

Multiple Sclerosis

77

多系統(tǒng)萎縮

Multiple System Atrophy

78

肌強直性營養(yǎng)不良

Myotonic Dystrophy

79

N-乙酰谷氨酸合成酶缺乏癥

N-acetylglutamate Synthase Deficiency

80

新生兒糖尿病

Neonatal Diabetes Mellitus

81

視神經(jīng)脊髓炎

Neuromyelitis Optica

82

尼曼匹克病

Niemann-Pick Disease

83

非綜合征性耳聾

Non-Syndromic Deafness

84

Noonan綜合征

Noonan Syndrome

85

鳥氨酸氨甲酰基轉(zhuǎn)移酶缺乏癥

Ornithine Transcarbamylase Deficiency

86

成骨不全癥（脆骨?。?/span>

Osteogenesis Imperfecta (Brittle Bone Disease)

87

帕金森?。ㄇ嗄晷汀⒃绨l(fā)型）

Parkinson Disease (Young-onset , Early-onset)

88

陣發(fā)性睡眠性血紅蛋白尿

Paroxysmal Nocturnal Hemoglobinuria

89

黑斑息肉綜合征

Peutz-Jeghers Syndrome

90

苯丙酮尿癥

Phenylketonuria

91

POEMS綜合征

POEMS Syndrome

92

卟啉病

Porphyria

93

Prader-Willi綜合征

Prader-Willi Syndrome

94

原發(fā)性聯(lián)合免疫缺陷

Primary Combined Immune Deficiency

95

原發(fā)性遺傳性肌張力不全

Primary Hereditary Dystonia

96

原發(fā)性輕鏈型淀粉樣變

Primary Light Chain Amyloidosis

97

進行性家族性肝內(nèi)膽汁淤積癥

Progressive Familial Intrahepatic Cholestasis

98

進行性肌營養(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

重癥先天性粒細(xì)胞缺乏癥

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

谷固醇血癥

Sitosterolemia

109

脊髓延髓肌萎縮癥（肯尼迪?。?/span>

Spinal and Bulbar Muscular Atrophy (Kennedy Disease)

110

脊髓性肌萎縮癥

Spinal Muscular Atrophy

111

脊髓小腦性共濟失調(diào)

Spinocerebellar Ataxia

112

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

極長鏈酰基輔酶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-連鎖無丙種球蛋白血癥

X-linked Agammaglobulinemia

120

X-連鎖腎上腺腦白質(zhì)營養(yǎng)不良

X-linked Adrenoleukodystrophy

121

X-連鎖淋巴增生癥

X-linked Lymphoproliferative Disease