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?????   ???????2018-06-12 18:48:44   ?????   ?????0

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2018??5??11??


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1

21-???????? 

21-Hydroxylase Deficiency

2

?????

Albinism

3

Alport ?????

Alport Syndrome

4

????????????

Amyotrophic Lateral Sclerosis

5

Angelman ??????????????????

Angelman Syndrome

6

???????????

Arginase Deficiency

7

?????????????????????????

Asphyxiating Thoracic Dystrophy

(Jeune Syndrome)

8

?????????????

Atypical Hemolytic Uremic Syndrome

9

??????????????

Autoimmune Encephalitis

10

???????????????

Autoimmune Hypophysitis

11

??????????????????岡

Autoimmune Insulin Receptopathy

(Type B insulin resistance)

12

β-?????????

Beta-ketothiolase Deficiency

13

???????????

Biotinidase Deficiency

14

?????????????

Cardic Ion Channelopathies

15

????????????

Carnitine Deficiency

16

Castleman??

Castleman Disease

17

????????

Charcot-Marie-Tooth Disease

18

???????

Citrullinemia

19

???????????????????

Congenital Adrenal Hypoplasia

20

????????????????????

Congenital Hyperinsulinemic Hypoglycemia

21

????????????????

Congenital Myasthenic Syndrome

22

????????????????????????????????

Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)

23

?????????????

Congenital Scoliosis

24

????????????

Coronary Artery Ectasia

25

???????????????????????

Diamond-Blackfan Anemia

26

Erdheim-Chester??

Erdheim-Chester Disease

27

???????

Fabry Disease

28

????????к???

Familial Mediterranean Fever

29

????????

Fanconi Anemia

30

????????

Galactosemia

31

??л??

Gaucher’s Disease

32

??????????????

Generalized Myasthenia Gravis

33

Gitelman ?????

Gitelman Syndrome

34

???????I??

Glutaric Acidemia Type I

35

??????????I?????????

Glycogen Storage Disease (Type I??II??

36

????

Hemophilia

37

?ζ???????

Hepatolenticular Degeneration(Wilson Disease)

38

?????????????

Hereditary Angioedema (HAE)

39

????????????????

Hereditary Epidermolysis Bullosa

40

??????????????

Hereditary Fructose Intolerance

41

?????????

Hereditary Hypomagnesemia

42

???????????????

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

43

????????????

Hereditary Spastic Paraplegia

44

?????????????

Holocarboxylase Synthetase Deficiency

45

???????????

Homocysteinemia

46

??????????????????

Homozygous Hypercholesterolemia

47

??????赸??

Huntington Disease

48

HHH?????

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

49

???????????

Hyperphenylalaninemia

50

????????????

Hypophosphatasia

51

???????????

Hypophosphatemic Rickets

52

??????????

Idiopathic Cardiomyopathy

53

???????????????????????????

Idiopathic Hypogonadotropic Hypogonadism

54

?????ζ??????

Idiopathic Pulmonary Arterial Hypertension

55

???????????

Idiopathic Pulmonary Fibrosis

56

IgG4????????

IgG4 related Disease

57

???????????????

Inborn Errors of Bile Acid Synthesis

58

????????

Isovaleric Acidemia

59

???????????

Kallmann Syndrome

60

???????????????

Langerhans Cell Histiocytosis

61

???????????

Laron Syndrome

62

Leber????????????

Leber Hereditary Optic Neuropathy

63

????3-?????????A?????????

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

64

?????????

Lymphangioleiomyomatosis (LAM)

65

???????????????

Lysinuric Protein Intolerance

66

?????????????????

Lysosomal Acid Lipase Deficiency

67

???????

Maple Syrup Urine Disease

68

?????????

Marfan Syndrome

69

McCune-Albrigh?????

McCune-Albright Syndrome

70

???????????A?????????

Medium Chain Acyl-CoA Dehydrogenase Deficiency

71

???????????

Methylmalonic Academia

72

???????????

Mitochodrial Encephalomyopathy

73

?????????

Mucopolysaccharidosis

74

????????????

Multifocal Motor Neuropathy

75

???????????A?????????

Multiple Acyl-CoA Dehydrogenase Deficiency

76

???????

Multiple Sclerosis

77

???????

Multiple System Atrophy

78

?????????????

Myotonic Dystrophy

79

N-????????????????

N-acetylglutamate Synthase Deficiency

80

??????????

Neonatal Diabetes Mellitus

81

?????????

Neuromyelitis Optica

82

????????

Niemann-Pick Disease

83

????????????

Non-Syndromic Deafness

84

Noonan?????

Noonan Syndrome

85

??????????????????

Ornithine Transcarbamylase Deficiency

86

??????????????

Osteogenesis Imperfecta (Brittle Bone Disease)

87

?????????????????緢???

Parkinson Disease (Young-onset , Early-onset)

88

????????????????

Paroxysmal Nocturnal Hemoglobinuria

89

???????????

Peutz-Jeghers Syndrome

90

????????

Phenylketonuria

91

POEMS?????

POEMS Syndrome

92

?????

Porphyria

93

Prader-Willi?????

Prader-Willi Syndrome

94

????????????????

Primary Combined Immune Deficiency

95

??????????????????

Primary Hereditary Dystonia

96

??????????????????

Primary Light Chain Amyloidosis

97

????????????????????

Progressive Familial Intrahepatic Cholestasis

98

??????????????

Progressive Muscular Dystrophy

99

??????

Propionic Acidemia

100

???????????

Pulmonary Alveolar Proteinosis

101

???????????

Pulmonary Cystic Fibrosis

102

???????????

Retinitis Pigmentosa

103

???????????

Retinoblastoma

104

?????????????????? 

Severe Congenital Neutropenia

105

?????????????????(Dravet?????)

Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)

106

?????????????

Sickle Cell Disease

107

Silver-Russell?????

Silver-Russell Syndrome

108

??????

Sitosterolemia

109

???????輡??????????????

Spinal and Bulbar Muscular Atrophy (Kennedy Disease)

110

???????????

Spinal Muscular Atrophy

111

????С??????????

Spinocerebellar Ataxia

112

????????

Systemic Sclerosis

113

???????????????

Tetrahydrobiopterin Deficiency

114

?????????

Tuberous Sclerosis Complex

115

????????????

Tyrosinemia

116

?????????????A?????????

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

117

???????????

Williams Syndrome

118

????С??????????????????

Wiskott-Aldrich Syndrome

119

X-??????????????

X-linked Agammaglobulinemia

120

X-??????????????????????

X-linked Adrenoleukodystrophy

121

X-????????????

X-linked Lymphoproliferative Disease

 

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