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һĿ¼ĺ121֡δŻշƶ̬µĹʽݹҹĿ¼ΪſչعṩݣһάȺڽȨ档 

                  һĿ¼

 

Ӣ

1

21-ǻøȱ֢ 

21-Hydroxylase Deficiency

2

׻

Albinism

3

Alport ۺ

Alport Syndrome

4

ήӲ

Amyotrophic Lateral Sclerosis

5

Angelman ֢Ⱥʹۺ

Angelman Syndrome

6

øȱ֢

Arginase Deficiency

7

ۺϢǻʧ֢

Asphyxiating Thoracic Dystrophy

(Jeune Syndrome)

8

ǵѪ֢

Atypical Hemolytic Uremic Syndrome

9

Autoimmune Encephalitis

10

Դ

Autoimmune Hypophysitis

11

ȵ岡

Autoimmune Insulin Receptopathy

(Type B insulin resistance)

12

-ͪøȱ֢

Beta-ketothiolase Deficiency

13

øȱ֢

Biotinidase Deficiency

14

ͨ

Cardic Ion Channelopathies

15

ԭȱ֢

Carnitine Deficiency

16

Castleman

Castleman Disease

17

Ǽή֢

Charcot-Marie-Tooth Disease

18

ϰѪ֢

Citrullinemia

19

ٷ

Congenital Adrenal Hypoplasia

20

ԸȵԵѪѪ֢

Congenital Hyperinsulinemic Hypoglycemia

21

Լۺ

Congenital Myasthenic Syndrome

22

ԼǿֱӪԼǿֱۺ

Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)

23

Լ

Congenital Scoliosis

24

״Ų

Coronary Artery Ectasia

25

ԴϸϰƶѪ

Diamond-Blackfan Anemia

26

Erdheim-Chester

Erdheim-Chester Disease

27

ײ

Fabry Disease

28

Եк

Familial Mediterranean Fever

29

ƶѪ

Fanconi Anemia

30

Ѫ֢

Galactosemia

31

л

Gauchers Disease

32

ȫ֢

Generalized Myasthenia Gravis

33

Gitelman ۺ

Gitelman Syndrome

34

Ѫ֢I

Glutaric Acidemia Type I

35

ԭۻI͡

Glycogen Storage Disease (Type III

36

ѪѲ

Hemophilia

37

ζ״˱

Hepatolenticular Degeneration(Wilson Disease)

38

ŴѪˮ

Hereditary Angioedema (HAE)

39

ŴԴԱƤɽ֢

Hereditary Epidermolysis Bullosa

40

ŴԹDz֢

Hereditary Fructose Intolerance

41

ŴԵþѪ֢

Hereditary Hypomagnesemia

42

ŴԶ෢ԹԳմ

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

43

ŴԾԽ̱

Hereditary Spastic Paraplegia

44

ȫȻøϳøȱ֢

Holocarboxylase Synthetase Deficiency

45

ͬͰװѪ֢

Homocysteinemia

46

ӼԸߵ̴Ѫ֢

Homozygous Hypercholesterolemia

47

͢赸

Huntington Disease

48

HHHۺ

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

49

߱Ѫ֢

Hyperphenylalaninemia

50

ͼøѪ֢

Hypophosphatasia

51

Ͳ

Hypophosphatemic Rickets

52

طļ

Idiopathic Cardiomyopathy

53

طԵʹټٹܼ֢

Idiopathic Hypogonadotropic Hypogonadism

54

طԷζѹ

Idiopathic Pulmonary Arterial Hypertension

55

طԷά

Idiopathic Pulmonary Fibrosis

56

IgG4Լ

IgG4 related Disease

57

Ե֭ϳϰ

Inborn Errors of Bile Acid Synthesis

58

Ѫ֢

Isovaleric Acidemia

59

ۺ

Kallmann Syndrome

60

ʸ˹֯ϸ֢

Langerhans Cell Histiocytosis

61

ۺ

Laron Syndrome

62

LeberŴ񾭲

Leber Hereditary Optic Neuropathy

63

3-øAøȱ֢

Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

64

ܰ͹ܼ

Lymphangioleiomyomatosis (LAM)

65

򵰰ײ֢

Lysinuric Protein Intolerance

66

ø֬øȱ֢

Lysosomal Acid Lipase Deficiency

67

֢

Maple Syrup Urine Disease

68

ۺ

Marfan Syndrome

69

McCune-Albrighۺ

McCune-Albright Syndrome

70

øAøȱ֢

Medium Chain Acyl-CoA Dehydrogenase Deficiency

71

׻Ѫ֢

Methylmalonic Academia

72

Լ

Mitochodrial Encephalomyopathy

73

֢

Mucopolysaccharidosis

74

˶񾭲

Multifocal Motor Neuropathy

75

øAøȱ֢

Multiple Acyl-CoA Dehydrogenase Deficiency

76

෢Ӳ

Multiple Sclerosis

77

ϵͳή

Multiple System Atrophy

78

ǿֱӪ

Myotonic Dystrophy

79

N-Ȱϳøȱ֢

N-acetylglutamate Synthase Deficiency

80

Neonatal Diabetes Mellitus

81

񾭼

Neuromyelitis Optica

82

ƥ˲

Niemann-Pick Disease

83

ۺԶ

Non-Syndromic Deafness

84

Noonanۺ

Noonan Syndrome

85

ᰱתøȱ֢

Ornithine Transcarbamylase Deficiency

86

ɹDzȫ֢Dz

Osteogenesis Imperfecta (Brittle Bone Disease)

87

ɭ͡緢ͣ

Parkinson Disease (Young-onset , Early-onset)

88

˯Ѫ쵰

Paroxysmal Nocturnal Hemoglobinuria

89

ڰϢۺ

Peutz-Jeghers Syndrome

90

֢ͪ

Phenylketonuria

91

POEMSۺ

POEMS Syndrome

92

߲

Porphyria

93

Prader-Williۺ

Prader-Willi Syndrome

94

ԭȱ

Primary Combined Immune Deficiency

95

ԭŴԼȫ

Primary Hereditary Dystonia

96

ԭ͵

Primary Light Chain Amyloidosis

97

ԼԸڵ֭ٻ֢

Progressive Familial Intrahepatic Cholestasis

98

ԼӪ

Progressive Muscular Dystrophy

99

Ѫ֢

Propionic Acidemia

100

ݵ׳֢

Pulmonary Alveolar Proteinosis

101

ά

Pulmonary Cystic Fibrosis

102

Ĥɫر

Retinitis Pigmentosa

103

Ĥĸϸ

Retinoblastoma

104

֢ϸȱ֢ 

Severe Congenital Neutropenia

105

Ӥؼ(Dravetۺ)

Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)

106

ϸƶѪ

Sickle Cell Disease

107

Silver-Russellۺ

Silver-Russell Syndrome

108

ȹ̴Ѫ֢

Sitosterolemia

109

輡ή֢ϲ

Spinal and Bulbar Muscular Atrophy (Kennedy Disease)

110

Լή֢

Spinal Muscular Atrophy

111

СԹʧ

Spinocerebellar Ataxia

112

ϵͳӲ֢

Systemic Sclerosis

113

ȱ֢

Tetrahydrobiopterin Deficiency

114

Ӳ֢

Tuberous Sclerosis Complex

115

ԭҰѪ֢

Tyrosinemia

116

øAøȱ֢

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

117

ķ˹ۺ

Williams Syndrome

118

ʪѪСٰȱۺ

Wiskott-Aldrich Syndrome

119

X-ޱ򵰰Ѫ֢

X-linked Agammaglobulinemia

120

X-԰Ӫ

X-linked Adrenoleukodystrophy

121

X-֢ܰ

X-linked Lymphoproliferative Disease




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