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