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HEREDITARY DISEASE DETECTION遗传病检测

呼吸及免疫缺陷病

 

呼吸及免疫缺陷病检测包共收录与呼吸及免疫缺陷病相关224个基因,247种疾病。如:纤毛运动障碍、肺表面活性物质代谢功能障碍、中枢性低通气综合征、特发性肺纤维化等。


主要疾病如下:

1

Ciliary dyskinesia, primary, 1

纤毛运动障碍 1

2

Ciliary dyskinesia, primary, 2

纤毛运动障碍 2

3

Ciliary dyskinesia, primary, 3

纤毛运动障碍 3

4

Ciliary dyskinesia, primary, 6

纤毛运动障碍 6

5

Ciliary dyskinesia, primary, 7

纤毛运动障碍 7

6

Ciliary dyskinesia, primary, 9

纤毛运动障碍 9

7

Ciliary dyskinesia, primary, 10

纤毛运动障碍 10

8

Ciliary dyskinesia, primary, 11

纤毛运动障碍 11

9

Ciliary dyskinesia, primary, 12

纤毛运动障碍 12

10

Ciliary dyskinesia, primary, 13

纤毛运动障碍 13

11

Ciliary dyskinesia, primary, 14

纤毛运动障碍 14

12

Ciliary dyskinesia, primary, 15

纤毛运动障碍 15

13

Ciliary dyskinesia, primary, 16

纤毛运动障碍 16

14

Ciliary dyskinesia, primary, 17

纤毛运动障碍 17

15

Ciliary dyskinesia, primary, 18

纤毛运动障碍 18

16

Ciliary dyskinesia, primary, 19

纤毛运动障碍 19

17

Ciliary dyskinesia, primary, 20

纤毛运动障碍 20

18

Ciliary dyskinesia, primary, 21

纤毛运动障碍 21

19

Ciliary dyskinesia, primary, 22

纤毛运动障碍 22

20

Ciliary dyskinesia, primary, 23

纤毛运动障碍 23

21

Ciliary dyskinesia, primary, 24

纤毛运动障碍 24

22

Ciliary dyskinesia, primary, 25

纤毛运动障碍 25

23

Ciliary dyskinesia, primary, 26

纤毛运动障碍 26

24

Ciliary dyskinesia, primary, 27

纤毛运动障碍 27

25

Ciliary dyskinesia, primary, 28

纤毛运动障碍 28

26

Surfactant metabolism dysfunction, pulmonary, 1

肺表面活性物质代谢功能障碍 1

27

Surfactant metabolism dysfunction, pulmonary, 2

肺表面活性物质代谢功能障碍 2

28

Surfactant metabolism dysfunction, pulmonary, 3

肺表面活性物质代谢功能障碍 3

29

Surfactant metabolism dysfunction, pulmonary, 4

肺表面活性物质代谢功能障碍 4

30

Pulmonary fibrosis, idiopathic

特发性肺纤维化

31

Pulmonary fibrosis, idiopathic

特发性肺纤维化

32

Pulmonary fibrosis, idiopathic

特发性肺纤维化

33

Pulmonary fibrosis, idiopathic

特发性肺纤维化

34

{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}

肺纤维化和骨髓障碍,端粒相关 1

35

Cystic fibrosis

囊性纤维化变性

36

Emphysema due to AAT deficiency

肺气肿ATT缺失导致

37

Emphysema-cirrhosis, due to AAT deficiency

肺气肿-肝硬化ATT缺失导致

38

Pneumothorax, primary spontaneous

原发性自发性气胸

39

Pulmonary hypertension, primary, 1

原发性肺动脉高压 1

40

Pulmonary hypertension, primary, 2

原发性肺动脉高压 2

41

Central hypoventilation syndrome

中枢性低通气综合征 

42

Central hypoventilation syndrome

中枢性低通气综合征 

43

Central hypoventilation syndrome

中枢性低通气综合征 

44

Central hypoventilation syndrome

中枢性低通气综合征 

45

Central hypoventilation syndrome

中枢性低通气综合征

46

Bronchiectasis with or without elevated sweat chloride 1

支气管扩张 1型 伴或不伴汗液氯离子升高 

47

Bronchiectasis with or without elevated sweat chloride 2

支气管扩张 2型 伴或不伴汗液氯离子升高 

48

Bronchiectasis with or without elevated sweat chloride 3

支气管扩张 3型 伴或不伴汗液氯离子升高 

49

{Bronchiectasis with or without elevated sweat chloride 1, modifier of}

支气管扩张症 伴或不伴汗水氯离子超标 1型 修饰型

50

Severe combined immunodeficiency due to ADA deficiency

重症联合免疫缺陷 ADA缺乏导致

51

Severe combined immunodeficiency, Athabascan type

重症联合免疫缺陷 athabascan

52

Severe combined immunodeficiency, X-linked

重症联合免疫缺陷 X连锁

53

Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type

重症联合免疫缺陷 T细胞阴性 B细胞/自然杀伤细胞阳性

54

Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive

重症联合免疫缺陷 T细胞阴性/B细胞阳性/natural killer 细胞阳性型

55

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

重症联合免疫缺陷伴电离辐射敏感 小头畸形 发育迟缓

56

Severe combined immunodeficiency, B cell-negative

重症联合免疫缺陷 B细胞阴性型

57

Severe combined immunodeficiency, B cell-negative

重症联合免疫缺陷 B细胞阴性型

58

SCID, autosomal recessive, T-negative/B-positive type

T细胞阴性/B细胞阳性 SCID 常染色体隐性

59

Immunodeficiency with hyper-IgM, type 2

免疫缺陷 2型 伴高IgM

60

Immunodeficiency with hyper-IgM, type 3

免疫缺陷 3型 伴高IgM

61

Immunodeficiency with hyper IgM, type 5

免疫缺陷 5型 伴高IgM 

62

Immunodeficiency, X-linked, with hyper-IgM

免疫缺陷 伴高IgM X连锁 

63

Immunodeficiency, common variable, 1

常见变异型免疫缺陷 1

64

Immunodeficiency, common variable, 2

常见变异型免疫缺陷 2

65

Immunodeficiency, common variable, 3

常见变异型免疫缺陷 3

66

Immunodeficiency, common variable, 5

常见变异型免疫缺陷 5

67

Immunodeficiency, common variable, 6

常见变异型免疫缺陷 6

68

Immunodeficiency, common variable, 13

常见变异型免疫缺陷 13

69

Immunodeficiency, isolated

免疫缺陷 独立型

70

Immunodeficiency 8

免疫缺陷 8

71

Immunodeficiency 9

免疫缺陷 9

72

Immunodeficiency 10

免疫缺陷 10

73

Immunodeficiency 17, CD3 gamma deficient

CD3γ缺陷免疫缺陷 17

74

Immunodeficiency 18

免疫缺陷 18

75

Immunodeficiency 18, SCID variant

免疫缺陷 18 SCID变异型

76

Immunodeficiency 19

免疫缺陷 19

77

Immunodeficiency 21

免疫缺陷 21

78

?Immunodeficiency 25

?免疫缺陷 25

79

Immunodeficiency 26, with or without neurologic abnormalities

免疫缺陷 26型 伴或无神经系统异常

80

Immunodeficiency 27A, mycobacteriosis, AR

免疫缺陷型分枝杆菌病 27A型 常染色体隐性

81

Immunodeficiency 27B, mycobacteriosis, AD

免疫缺陷型分枝杆菌病 27B  常染色体显性

82

Immunodeficiency 28, mycobacteriosis

免疫缺陷型分枝杆菌病 28

83

Immunodeficiency 29, mycobacteriosis

免疫缺陷型分枝杆菌病 29 

84

Immunodeficiency 30

免疫缺陷 30

85

Immunodeficiency 31A, mycobacteriosis, autosomal dominant

免疫缺陷型分枝杆菌病 31A型 常染色体显性

86

Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive

免疫缺陷型分枝杆菌病 31B型 常染色体隐性

87

Immunodeficiency 31C, autosomal dominant

免疫缺陷型分枝杆菌病 31C型 常染色体显性

88

Immunodeficiency 32A, mycobacteriosis, autosomal dominant

免疫缺陷型分枝杆菌病 32A型 常染色体显性

89

Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive

抗分枝杆菌免疫缺陷 32B型 常染色体隐性

90

Immunodeficiency 33

免疫缺陷 33

91

Immunodeficiency 34, mycobacteriosis, X-linked

免疫缺陷性分枝杆菌病 34 X连锁

92

Immunodeficiency 41 with lymphoproliferation and autoimmunity

淋巴组织增生和自身免疫免疫缺陷 41

93

Immunodeficiency due to ficolin 3 deficiency

免疫缺陷 纤维凝胶蛋白-3缺乏导致

94

Immunodeficiency due to defect in MAPBP-interacting protein

免疫缺陷 MAPBP-interacting蛋白缺陷导致

95

Immunodeficiency due to purine nucleoside phosphorylase deficiency

免疫缺陷 嘌呤核苷磷酸化酶缺陷导致

96

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia

免疫缺陷 伴镁缺乏、Epstein-Barr病毒感染及肿瘤  X连锁

97

T-cell immunodeficiency, congenital alopecia, and nail dystrophy

T细胞免疫缺陷-先天性脱发-指甲营养不良

98

Selective T-cell defect

选择性T细胞缺陷

99

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency

外胚层发育不良、无汗、水肿和免疫缺陷症

100

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency

无汗性外胚层发育不良伴T细胞免疫缺陷

101

Combined immunodeficiency, X-linked, moderate

适度联合免疫缺陷 X连锁

102

Neutrophil immunodeficiency syndrome

中性粒细胞免疫缺陷综合征

103

Hepatic venoocclusive disease with immunodeficiency

肝静脉闭塞性疾病 伴免疫缺陷

104

Growth hormone insensitivity with immunodeficiency

生长激素不敏感 伴免疫缺陷

105

Immunodeficiency 31C, autosomal dominant

免疫缺陷(31C型),常染色体显性遗传

106

Immunodeficiency, common variable, 13

普通变异性免疫缺陷,13

107

Lymphangioleiomyomatosis

淋巴管平滑肌瘤病

108

Lymphangioleiomyomatosis, somatic

淋巴管平滑肌瘤病,体细胞

109

Lymphoproliferative syndrome 1

淋巴组织增生综合征 1 

110

Lymphoproliferative syndrome, X-linked, 1

淋巴组织增生综合征 1 X连锁

111

Lymphoproliferative syndrome, X-linked, 2 

淋巴组织增生综合征 2 X连锁

112

Autoimmune lymphoproliferative syndrome, type IA

自身免疫性淋巴增生综合征 IA

113

Autoimmune lymphoproliferative syndrome, type IB

自身免疫性淋巴增生综合征 IB

114

Autoimmune lymphoproliferative syndrome, type II

自身免疫性淋巴增生综合征 II

115

?Autoimmune lymphoproliferative syndrome, type IIB

?自身免疫性淋巴增生综合征 IIB

116

{Autoimmune lymphoproliferative syndrome}

自身免疫性淋巴细胞增生综合征

117

?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic

?RAS相关自身免疫性淋巴细胞增生综合征,IV型,体细胞

118

Autoimmune disease, multisystem, with facial dysmorphism

多系统自身免疫性疾病 伴面部畸形

119

Autoimmune disease, multisystem, infantile-onset, 1

婴儿多发性自身免疫性疾病 1

120

Autoimmune disease, multisystem, infantile-onset, 2

婴儿多发性自身免疫性疾病 2

121

Agammaglobulinemia, X-linked 1

无丙种球蛋白血症 1 X连锁

122

Agammaglobulinemia 2

无丙种球蛋白血症 2

123

Agammaglobulinemia 4

无丙种球蛋白血症 4

124

Agammaglobulinemia 6

无丙种球蛋白血症 6

125

Agammaglobulinemia and isolated hormone deficiency

无丙种球蛋白血症和孤立的生长激素缺乏症

126

Hyper-IgE recurrent infection syndrome, autosomal dominant

IgE伴复发性感染综合征,常显

127

Hyper-IgE recurrent infection syndrome, autosomal recessive

IgE伴复发性感染综合征,常隐

128

Hypereosinophilic syndrome, idiopathic, resistant to imatinib

特发性嗜酸性粒细胞增多症综合征

129

Hermansky-Pudlak syndrome 1

Hermansky-Pudlak 综合征 1

130

Hermansky-Pudlak syndrome 2

Hermansky-Pudlak 综合征 2

131

Hermansky-Pudlak syndrome 3

Hermansky-Pudlak 综合征 3

132

Hermansky-Pudlak syndrome 4

Hermansky-Pudlak 综合征 4

133

Hermansky-Pudlak syndrome 5

Hermansky-Pudlak 综合征 5

134

Hermansky-Pudlak syndrome 6

Hermansky-Pudlak 综合征 6

135

Hermansky-Pudlak syndrome 7

Hermansky-Pudlak 综合征 7

136

Hermansky-Pudlak syndrome 8

Hermansky-Pudlak 综合征 8

137

Hermansky-pudlak syndrome 9

Hermansky-Pudlak 综合征 9

138

Baraitser-Winter syndrome 1

Baraitser-Winter综合征 1

139

Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Immunodeficiency-centromeric instability-facial anomalies综合征 1

140

Immunodeficiency-centromeric instability-facial anomalies syndrome-2

Immunodeficiency-centromeric instability-facial anomalies综合征 2

141

{Hemolytic uremic syndrome, atypical, susceptibility to, 1}

{不典型溶血性尿毒综合征,易感性,1}

142

{Hemolytic uremic syndrome, atypical, susceptibility to, 2}

{非典型溶血性尿毒综合征,易感性,2}

143

{Hemolytic uremic syndrome, atypical, susceptibility to, 3}

{非典型溶血性尿毒综合征,易感性,3}

144

{Hemolytic uremic syndrome, atypical, susceptibility to, 5}

{非典型溶血性尿毒综合征,易感性,5}

145

Bare lymphocyte syndrome, type II, complementation group A

Bare lymphocyte综合征 II A

146

Bare lymphocyte syndrome, type II, complementation group C

Bare lymphocyte综合征 II C

147

Bare lymphocyte syndrome, type II, complementation group D

Bare lymphocyte综合征 II D

148

Bare lymphocyte syndrome, type II, complementation group E

Bare lymphocyte综合征 II E

149

3MC syndrome 1

3MC综合征 1

150

3MC syndrome 2

3MC综合征 2

151

Haim-Munk syndrome

Haim-Munk综合征

152

Papillon-Lefevre syndrome

Papillon-Lefevre综合征

153

WHIM syndrome

WHIM综合征

154

Muckle-Wells syndrome

Muckle-Wells综合征

155

LIG4 syndrome

LIG4综合征

156

Majeed syndrome

Majeed综合征

157

Chediak-Higashi syndrome

Chediak-Higashi综合征

158

Griscelli syndrome, type 2

Griscelli综合征 2

159

Anauxetic dysplasia

Anauxetic缺乏症

160

RIDDLE syndrome

RIDDLE综合征

161

Shwachman-Diamond syndrome

Shwachman-Diamond综合征

162

Cohen syndrome

Cohen综合征

163

Multiple congenital anomalies-hypotonia-seizures syndrome 2

多发性先天性畸形-张力减退-癫痫综合征 2

164

Mismatch repair cancer syndrome

错配修复肿瘤综合征

165

Bare lymphocyte syndrome, type I

裸淋巴细胞综合症  I

166

Bare lymphocyte syndrome, type I, due to TAP2 deficiency

裸淋巴细胞综合症  I TAP2缺乏导致

167

Bare lymphocyte syndrome, type I

裸淋巴细胞综合症  I

168

MHC class II deficiency, complementation group B

MHC class II抗体缺乏,互补B

169

Barth syndrome

Barth综合征

170

C1q deficiency

C1q缺乏症

171

C1q deficiency

C1q缺乏症

172

C1q deficiency

C1q缺乏症

173

C1s deficiency 

C1s缺乏症

174

C2 deficiency

C2缺乏症

175

C3 deficiency

C3缺乏症

176

C4a deficiency

C4a缺陷症

177

C4B deficiency 

C4B缺陷症

178

C6 deficiency

C6缺陷症

179

C7 deficiency

C7缺陷症

180

C8 deficiency, type I

C8缺乏症 I

181

C8 deficiency, type II

C8缺乏症 II

182

C9 deficiency

C9缺乏症

183

CD8 deficiency, familial

家族性CD8缺乏

184

IRAK4 deficiency

IRAK4缺乏症

185

MASP2 deficiency

MASP2缺乏症

186

Specific granule deficiency

特异性颗粒缺乏症

187

Complement component 4, partial deficiency of

补体成分 4型 部分缺乏

188

Complement factor D deficiency

补体因子D缺乏症

189

Complement factor H deficiency

补体因子H缺乏症

190

Complement factor I deficiency

补体因子I缺乏症

191

MHC class II deficiency, complementation group B

MHC II级缺陷 互补B

192

Properdin deficiency, X-linked

备解素缺陷症 X连锁

193

Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy

CD59介导性溶血性贫血 伴或不伴免疫性多发性神经病

194

Myelokathexis, isolated

单一性脊髓组织蛋白酶症

195

Chronic granulomatous disease, X-linked

慢性肉芽肿性疾病 X连锁

196

Chronic granulomatous disease, autosomal, due to deficiency of CYBA

慢性肉芽肿性疾病 CYBA缺陷导致

197

Chronic granulomatous disease due to deficiency of NCF-1

慢性肉芽肿性疾病 NFC1缺陷导致

198

Chronic granulomatous disease due to deficiency of NCF-2

慢性肉芽肿性疾病 NFC2缺陷导致

199

Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III

慢性肉芽肿性疾病 III型 常染色体隐性 细胞色素b阳性

200

Chronic granulomatous disease, autosomal, due to deficiency of CYBA

慢性肉芽肿性疾病,常染色体显性遗传,由于缺乏CYBA

201

Neutropenia, cyclic

周期性中性白细胞减少症

202

Neutropenia, severe congenital 1, autosomal dominant

重症先天性中性白细胞减少症 1型 常染色体显性

203

Neutropenia, severe congenital 2, autosomal dominant

重症先天性中性白细胞减少症 2型 常染色体显性

204

Neutropenia, severe congenital 3, autosomal recessive

重症先天性中性白细胞减少症 3型 常染色体隐性

205

Neutropenia, severe congenital 4, autosomal recessive

重症先天性中性白细胞减少症 4型 常染色体隐性

206

Neutropenia, severe congenital, X-linked

重症先天性中性白细胞减少症 X连锁

207

Neutropenia, nonimmune chronic idiopathic, of adults

非免疫性慢性特发性中性细胞减少症 成年型

208

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities

贫血 X-连锁 伴或不伴中性粒细胞减少伴或血小板异常

209

Poikiloderma with neutropenia

皮肤异色症 伴中性粒细胞减少症

210

Leukocyte adhesion deficiency

白细胞粘连缺乏症

211

Leukocyte adhesion deficiency, type III

白细胞粘连缺乏症 III

212

Interleukin 1 receptor antagonist deficiency

白细胞介素1受体拮抗剂缺乏症

213

{Leukemia, acute myeloid}

急性髓系白血病

214

{Leukemia, acute myeloid, susceptibility to}

急性髓系白血病 易感性

215

Inflammatory bowel disease 25, early onset, autosomal recessive

炎症性肠疾病 25型 早期起病 常染色体隐性

216

Inflammatory bowel disease 28, early onset, autosomal recessive

炎症性肠疾病 28型 早期起病 常染色体隐性

217

{Inflammatory bowel disease 1}

炎症性肠病 1

218

Candidiasis, familial, 2, autosomal recessive

家族性念珠菌病 2型 常染色体隐性

219

Candidiasis, familial, 5, autosomal recessive

家族性念珠菌病 5型 常染色体隐性

220

Candidiasis, familial, 6, autosomal dominant

家族性念珠菌病 6型 常染色体显性

221

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

无菌性关节炎化脓-坏疽性脓皮病-痤疮

222

{Rheumatoid arthritis, progression of}

类风湿性关节炎 进行性

223

Pyogenic bacterial infections, recurrent, due to MYD88 deficiency

复发性化脓性细菌感染 MYD88缺乏导致

224

Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia

自身免疫性多内分泌腺病综合征 I型 伴或不伴可逆干骺端发育不良

225

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

免疫调节失调-多(种)内分泌病-肠病  X连锁

226

Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations

反复感染 伴脑病-肝功能缺陷-心血管畸形

227

{HIV-1, susceptibility to}

HIV-1  易感性

228

{HIV1 infection, resistance to}

HIV1感染 抗性

229

Familial Mediterranean fever

家族性地中海发热

230

Periodic fever, familial

家族性周期性发热

231

Reticular dysgenesis

网状组织发育不全

232

Invasive pneumococcal disease, recurrent isolated, 1

复发性孤立性侵袭性肺炎球菌病 1

233

Invasive pneumococcal disease, recurrent isolated, 2

复发性孤立性侵袭性肺炎球菌病 2

234

Hemophagocytic lymphohistiocytosis, familial, 2

家族性噬血细胞综合征 2

235

Hemophagocytic lymphohistiocytosis, familial, 3

家族性噬血细胞综合征 3

236

Hemophagocytic lymphohistiocytosis, familial, 4

家族性噬血细胞综合征 4

237

Hemophagocytic lymphohistiocytosis, familial, 5

家族性噬血细胞综合征 5

238

Aplastic anemia

再生障碍性贫血

239

{Aplastic anemia, susceptibility to}

再生障碍性贫血 易感性

240

{Aplastic anemia}

再生障碍性贫血

241

Glycogen storage disease Ib

糖原贮积症 Ib

242

Glycogen storage disease Ic

糖原贮积症 Ic

243

D-2-hydroxyglutaric aciduria 2

D-2羟基戊二酸尿症 2

244

Mevalonic aciduria

甲羟戊酸尿症

245

Hemorrhagic diathesis due to antithrombin Pittsburgh

抗凝血酶匹兹堡导致出血素质

246

Adenosine deaminase deficiency, partial

腺苷脱氨酶缺乏症,部分

247

Epidermodysplasia verruciformi

疣状皮肤发育不良

248

Epidermodysplasia verruciformis

疣状皮肤发育不良

249

{Herpes simplex encephalitis, susceptibility to, 1}

单纯疱疹性脑炎 1型 易感性

250

{Herpes simplex encephalitis, susceptibility to, 2}

单纯疱疹性脑炎 2型 易感性

251

{?Herpes simplex encephalitis, susceptibility to, 3}

?单纯疱疹性脑炎 3型 易感性

252

Cutis laxa, autosomal recessive, type IA

皮肤松弛症 IA型 常染色体隐性

253

Cutis laxa, autosomal recessive, type IB

皮肤松弛症 IB型 常染色体隐性

254

Cutis laxa, autosomal recessive, type IC

皮肤松弛症 IC型 常染色体隐性

255

Cutis laxa, autosomal dominant 2

皮肤松弛症 2型 常染色体显性

256

Cutis laxa, AD

皮肤松弛 AD

257

Telangiectasia, hereditary hemorrhagic, type 1

遗传性出血性毛细血管扩张症 1

258

Telangiectasia, hereditary hemorrhagic, type 2

遗传性出血性毛细血管扩张症 2

259

Periodontitis 1, juvenile

青少年牙周炎 1

260

Tuberous sclerosis-1

结节硬化症 1

261

Tuberous sclerosis-2

结节硬化症 2

 

 

 

 

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