010-82444060

科技健康,快乐未来

HEREDITARY DISEASE DETECTION遗传病检测

遗传性肾病

 

遗传性肾病检测包共收录与遗传性肾病相关270个基因,323种疾病。如:肾病型胱氨酸症、胱酸尿症、肾性糖尿、远端肾小管性酸中毒等。


主要疾病如下:

1

Renal tubular dysgenesis

肾小管发育不良

2

Renal tubular dysgenesis

肾小管发育不良

3

Renal tubular dysgenesis

肾小管发育不良

4

Renal tubular dysgenesis

肾小管发育不良

5

Polycystic kidney disease, adult type I

多囊肾 1型 成人

6

Polycystic kidney disease 2

多囊肾 2

7

Polycystic kidney and hepatic disease

多囊性肾脏和肝脏疾病

8

{Renal cell carcinoma}

肾细胞癌

9

Renal cysts and diabetes syndrome

肾囊肿和糖尿病综合征

10

Medullary cystic kidney disease 1

髓质囊性肾病1

11

Medullary cystic kidney disease 2

髓质囊性肾病2

12

{End-stage renal disease, nondiabetic, susceptibility to}

{非糖尿病终末期肾病,易感性}

13

Ventriculomegaly with cystic kidney disease

脑室扩张伴囊性肾病

14

Diabetes insipidus, nephrogenic, autosomal

肾性尿崩症 常显

15

Diabetes insipidus, nephrogenic, X-Linked

肾性尿崩症 X连锁

16

Nephrogenic syndrome of inappropriate antidiuresis

抗利尿不适当肾病综合征

17

Nephronophthisis 1, juvenile

肾结核 1型 青少年型

18

Nephronophthisis 2, infantile

肾结核 2型 婴儿型

19

Nephronophthisis 3

肾结核 3

20

Nephronophthisis 4

肾结核 4

21

Nephronophthisis 7

肾结核 7

22

Nephronophthisis 9

肾结核 9

23

Nephronophthisis 11

肾结核 11

24

Nephronophthisis 12

肾结核 12

25

Nephronophthisis 13

肾结核 13

26

Nephronophthisis 14

肾结核 14

27

Nephronophthisis 15

肾结核 15

28

Nephronophthisis 16

肾结核 16

29

Nephronophthisis 18

肾结核 18

30

Nephronophthisis-like nephropathy 1

肾结核样肾病

31

Renal-hepatic-pancreatic dysplasia 1

--胰腺发育不良 1

32

?Renal-hepatic-pancreatic dysplasia 2

?--胰腺发育不良 2

33

Arthrogryposis, renal dysfunction, and cholestasis 1, ARCS1

关节弯曲-肾功能不全-胆汁淤积 1

34

Arthrogryposis, renal dysfunction, and cholestasis 2, ARCS2

关节弯曲-肾功能不全-胆汁淤积 2

35

Glomerulocystic kidney disease with hyperuricemia and isosthenuria

肾小球囊性肾病伴高尿酸血症和等渗尿

36

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis

高尿酸血症 肺高血压 肾功能衰竭和碱中毒

37

Branchiootorenal syndrome

腮耳肾综合征

38

Nephrolithiasis/osteoporosis, hypophosphatemic, 1

低血磷性肾结石伴骨质疏松症 1

39

Nephrolithiasis/osteoporosis, hypophosphatemic, 2

低血磷性肾结石伴骨质疏松症 2

40

Hypocalciuric Hypercalcemia, Familial, Type 1,HHC1

家族性低尿钙高钙血症 1

41

Hypercalcemia,infantile

婴儿型高钙血症

42

Hyperoxaluria, primary, type I

原发性高草酸尿症 I

43

Hyperoxaluria, primary, type II

原发性高草酸尿症 II

44

Hyperoxaluria, primary, type III

原发性高草酸尿症 III

45

Hypouricemia, renal

肾性低尿酸血症 

46

Hypouricemia, renal, 2

肾性低尿酸血症 2

47

Myoglobinuria, acute recurrent

急性复发性肌红蛋白尿

48

Hyperuricemic nephropathy, familial juvenile 1

家族性青少年高尿酸血症肾病 1

49

Hyperuricemic nephropathy, familial juvenile 2

家族性青少年高尿酸血症肾病 2

50

Hypomagnesemia-2, renal

肾性低镁血症 2

51

Hypomagnesemia-3, renal

肾性低镁血症 3

52

Hypomagnesemia-5, renal, with ocular involvement

肾性低镁血症 5

53

Hypomagnesemia-6, renal

肾性低镁血症 6

54

Tumoral calcinosis, hyperphosphatemic, familial

家族性瘤样钙化高磷酸盐血症

55

Tumoral calcinosis, hyperphosphatemic, familial

家族性瘤样钙化高磷酸盐血症

56

Tumoral calcinosis, hyperphosphatemic

瘤样钙化高磷酸盐血症

57

Nephrotic syndrome, type 1

肾病综合征 1

58

Nephrotic syndrome, type 2

肾病综合征 2 (激素耐药型)

59

Nephrotic syndrome, type 3

肾病综合征 3

60

Nephrotic syndrome, type 4 (Denys-Drash syndrome)

肾病综合征 4(伴弥漫性系膜硬化)DDS

61

Nephrotic syndrome, type 5, with or without ocular abnormalities

肾病综合征5(伴或不伴有眼部异常)

62

Nephrotic syndrome, type 6

肾病综合征6

63

Nephrotic syndrome, type 7

肾病综合征7

64

Nephrotic syndrome, type 8

肾病综合征8

65

Nephrotic syndrome, type 9

肾病综合征9

66

Wilms tumor, somatic

肾母细胞瘤 体细胞

67

Wilms tumor, type 1

肾母细胞瘤 1

68

Glomerulosclerosis, focal segmental, 1

局灶节段性肾小球硬化症 1

69

Glomerulosclerosis, focal segmental, 2

局灶节段性肾小球硬化症 2

70

Glomerulosclerosis, focal segmental, 3

局灶节段性肾小球硬化症 3

71

{Glomerulosclerosis, focal segmental, 4, susceptibility to}

局灶节段性肾小球硬化症 4型 易感

72

Glomerulosclerosis, focal segmental, 5

局灶节段性肾小球硬化症 5

73

Glomerulosclerosis, focal segmental, 6

局灶节段性肾小球硬化症 6

74

Glomerulosclerosis, focal segmental, 7

局灶节段性肾小球硬化症 7

75

Focal segmental glomerulosclerosis 8

局灶节段性肾小球硬化症 8

76

Focal segmental glomerulosclerosis 9

局灶节段性肾小球硬化症 9

77

Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

肾小管性酸中毒伴骨骼石化症 3

78

Renal tubular acidosis with deafness

肾小管性酸中毒伴听力障碍

79

Renal tubular acidosis, distal, AD/AR

远端肾小管性酸中毒 常显/常隐

80

Renal tubular acidosis, distal, autosomal recessive

远端肾小管性酸中毒 常隐

81

Renal tubular acidosis, proximal, with ocular abnormalities

近端肾小管性酸中毒 伴眼部异常

82

Renal glucosuria

肾性糖尿

83

Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

低分子量蛋白尿伴高钙尿性肾钙质沉着症

84

Nephrolithiasis, type I

肾石病 I

85

Sensorineural deafness with mild renal dysfunction

感音神经性耳聋伴轻度肾功能紊乱

86

Renal hypodysplasia/aplasia 1

肾发育不良/发育不全 1

87

?Renal hypodysplasia/aplasia 2

?肾发育不良/发育不全 2

88

Renal agenesis

肾发育不良

89

Renal carcinoma, chromophobe, somatic

嫌色细胞肾癌 体细胞

90

Renal cell carcinoma, somatic

肾细胞癌 体细胞

91

Tyrosinemia type 1

酪氨酸血症 I

92

Tyrosinemia, type III

酪氨酸血症 III

93

Cystinosis, nephropathic

肾病型胱氨酸症

94

Cystinuria

胱酸尿症

95

Cystinuria

胱酸尿症

96

Galactosemia

半乳糖血症

97

Galactose epimerase deficiency

半乳糖表异构酶缺乏

98

Galactokinase deficiency with cataracts

半乳糖激酶缺乏伴白内障

99

Fructose intolerance

果糖不耐受

100

Wilson disease

肝豆状核变性

101

Hypophosphatemic rickets, AR

低磷酸盐血症性佝偻病 常隐

102

Hypophosphatemic rickets, autosomal recessive, 2

低磷酸盐血症性佝偻病 常隐 2

103

Hypophosphatemic rickets, autosomal dominant

低磷酸盐血症性佝偻病 常显

104

Hypophosphatemic rickets, X-linked dominant

低磷酸盐血症性佝偻病 X连锁显性

105

Hypophosphatemic rickets with hypercalciuria

低磷酸盐血症性佝偻病 伴高钙尿症

106

Hypophosphatemic rickets

低磷酸盐血症性佝偻病

107

Vitamin D-dependent rickets, type I

维生素D依赖性佝偻病 I

108

Vitamin D-dependent rickets,type IIa, VDDR2A

维生素D依赖性佝偻病 IIa

109

Rickets due to defect in vitamin D 25-hydroxylation

维生素D 25-羟化缺陷佝偻病

110

Pseudohypoaldosteronism, type I, autosomal recessive

假性醛固酮减少症 1型 常隐

111

Pseudohypoaldosteronism, type I, autosomal recessive

假性醛固酮减少症 1型 常隐

112

Pseudohypoaldosteronism, type I, autosomal recessive

假性醛固酮减少症 1型 常隐

113

Pseudohypoaldosteronism, type I, autosomal dominant

假性醛固酮减少症 1型 常显

114

Pseudohypoaldosteronism, type IIB

假性醛固酮减少症 IIB

115

Pseudohypoaldosteronism, type IIC

假性醛固酮减少症 IIC

116

Pseudohypoaldosteronism, type IID

假性醛固酮减少症 IID

117

Pseudohypoaldosteronism, type IIE

假性醛固酮减少症 IIE

118

Lipoprotein glomerulopathy

脂蛋白肾小球病

119

Hematuria, benign familial

薄基底膜肾病(良性家族性血尿)

120

Hematuria, benign familial

薄基底膜肾病(良性家族性血尿)

121

Hemolytic uremic syndrome, atypical, susceptibility to

非典型性溶血尿毒症综合征 易感

122

Hemolytic uremic syndrome, atypical, susceptibility to

非典型性溶血尿毒症综合征 易感

123

Hemolytic uremic syndrome, atypical, susceptibility to, 1

非典型性溶血尿毒症综合征 1型 易感

124

Hemolytic uremic syndrome, atypical, susceptibility to, 2

非典型性溶血尿毒症综合征 2型 易感

125

Hemolytic uremic syndrome, atypical, susceptibility to, 3

非典型性溶血尿毒症综合征 3型 易感

126

Hemolytic uremic syndrome, atypical, susceptibility to, 4

非典型性溶血尿毒症综合征 4型 易感

127

Hemolytic uremic syndrome, atypical, susceptibility to, 5

非典型性溶血尿毒症综合征 5型 易感

128

Hemolytic uremic syndrome, atypical, susceptibility to, 6

非典型性溶血尿毒症综合征 6型 易感

129

Homocystinuria, cblD type, variant 1

高胱胺酸尿症 cblD型 变异型 1

130

Methylmalonic aciduria, MUT type

甲基丙二酸尿症 MUT

131

Methylmalonic aciduria, vitamin B12-responsive

甲基丙二酸尿症 维他命B12相关

132

Methylmalonic aciduria, cblD type, variant 2

甲基丙二酸尿症 cblD型 变异型 2

133

Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type

由于腺苷钴胺素缺陷引起的甲基丙二酸尿症 维生素B12反应 cblB

134

Methylmalonic aciduria and homocystinuria, cblC type

甲基丙二酸尿症和高胱胺酸尿症 cblC

135

Methylmalonic aciduria and homocystinuria, cblD type

甲基丙二酸尿症和高胱胺酸尿症 cblD

136

Methylmalonic aciduria and homocystinuria, cblF type

甲基丙二酸尿症和高胱胺酸尿症 cblF

137

Peroxisome biogenesis disorder 1A (Zellweger)

过氧化物酶合成障碍 1A

138

Peroxisome biogenesis disorder 1B (NALD/IRD)

过氧化物酶合成障碍 1B

139

Peroxisome biogenesis disorder 2A (Zellweger)

过氧化物酶合成障碍 2A

140

Peroxisome biogenesis disorder 2B

过氧化物酶合成障碍 2B

141

Peroxisome biogenesis disorder 3A (Zellweger)

过氧化物酶合成障碍 3A

142

Peroxisome biogenesis disorder 3B

过氧化物酶合成障碍 3B

143

Peroxisome biogenesis disorder 4A (Zellweger)

过氧化物酶合成障碍 4A

144

Peroxisome biogenesis disorder 4B

过氧化物酶合成障碍 4B

145

Peroxisome biogenesis disorder 5A (Zellweger)

过氧化物酶合成障碍 5A

146

Peroxisome biogenesis disorder 5B

过氧化物酶合成障碍 5B

147

Peroxisome biogenesis disorder 6A (Zellweger)

生物合成障碍 6A

148

Peroxisome biogenesis disorder 6B

过氧化物酶合成障碍 6B

149

Peroxisome biogenesis disorder 7A (Zellweger)

过氧化物酶合成障碍 7A

150

Peroxisome biogenesis disorder 7B

过氧化物酶合成障碍 7B

151

Peroxisome biogenesis disorder 8A, (Zellweger)

过氧化物酶合成障碍 8A

152

Peroxisome biogenesis disorder 8B

过氧化物酶合成障碍 8B

153

Peroxisome biogenesis disorder 9B

过氧化物酶合成障碍 9B

154

Peroxisome biogenesis disorder 10A (Zellweger)

过氧化物酶合成障碍 10A

155

Peroxisome biogenesis disorder 11A (Zellweger)

过氧化物酶合成障碍 11A

156

Peroxisome biogenesis disorder 11B

过氧化物酶合成障碍 11B

157

Peroxisome biogenesis disorder 12A (Zellweger)

生物合成障碍 12A

158

Peroxisome biogenesis disorder 13A (Zellweger)

过氧化物酶合成障碍 13A

159

Lowe syndrome

眼脑肾综合征

160

Fanconi renotubular syndrome 2

范可尼综合征2

161

Fanconi renotubular syndrome 3

范可尼综合征3

162

Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young

范可尼综合征4

163

Fanconi-Bickel syndrome

Fanconi-Bickel综合征

164

Raine syndrome

Raine综合征

165

Liddle syndrome

Liddle综合征(即假性醛固酮增多症)

166

Liddle syndrome

Liddle综合征(即假性醛固酮增多症)

167

Bartter syndrome, type 1

巴特综合征 1

168

Bartter syndrome, type 2

巴特综合征 2

169

Bartter syndrome, type 3

巴特综合征 3

170

Bartter syndrome, type 4a

巴特综合征 4a

171

Bartter syndrome, type 4b, digenic

巴特综合征 4b

172

Bartter syndrome, type 4b, digenic

巴特综合征 4b

173

Hypocalcemia, autosomal dominant, with Bartter syndrome

巴特综合征伴低血钙

174

Alport syndrome, autosomal dominant

Alport综合征 常显

175

Alport syndrome, autosomal recessive

Alport综合征 常隐

176

Alport syndrome, autosomal recessive

Alport综合征 常隐

177

Alport syndrome, X-Linked

Alport综合征 X连锁

178

Frasier syndrome

Frasier综合征

179

Gitelman syndrome

Gitelman综合征

180

McKusick-Kaufman syndrome

McKusick-Kaufman综合征

181

Simpson-Golabi-Behmel syndrome, type 2

Simpson-Golabi-Behmel综合征 2

182

Ehlers-Danlos syndrome due to tenascin X deficiency

由于生腱蛋白X缺乏导致的Ehlers-Danlos综合征

183

Genitopatellar syndrome

生殖器-髌骨综合征

184

Dent disease

Dent 

185

Dent disease, 2

Dent2

186

Bardet-Biedl Syndrome 1

Bardet-Biedl综合征 1

187

{Bardet-Biedl syndrome 1, modifier of}

{Bardet-Biedl综合征 1型 修饰型}

188

Bardet-Biedl Syndrome 2

Bardet-Biedl综合征 2

189

Bardet-Biedl Syndrome 3

Bardet-Biedl综合征 3

190

Bardet-Biedl Syndrome 4

Bardet-Biedl综合征 4

191

Bardet-Biedl Syndrome 5

Bardet-Biedl综合征 5

192

Bardet-Biedl Syndrome 6

Bardet-Biedl综合征 6

193

Bardet-Biedl Syndrome 7

Bardet-Biedl综合征 7

194

Bardet-Biedl Syndrome 8

Bardet-Biedl综合征 8

195

Bardet-Biedl Syndrome 9

Bardet-Biedl综合征 9

196

Bardet-Biedl Syndrome 10

Bardet-Biedl综合征 10

197

Bardet-Biedl Syndrome 11

Bardet-Biedl综合征 11

198

Bardet-Biedl Syndrome 12

Bardet-Biedl综合征 12

199

Bardet-Biedl Syndrome 13

Bardet-Biedl综合征 13

200

Bardet-Biedl Syndrome 14

Bardet-Biedl综合征 14

201

Bardet-Biedl Syndrome 15

Bardet-Biedl综合征 15

202

Bardet-Biedl Syndrome 16

Bardet-Biedl综合征 16

203

Bardet-Biedl Syndrome 17

Bardet-Biedl综合征 17

204

Bardet-Biedl Syndrome 18

Bardet-Biedl综合征 18

205

Bardet-Biedl Syndrome 19

Bardet-Biedl综合征 19

206

Joubert syndrome 1

Joubert 综合征 1

207

Joubert syndrome 2

Joubert 综合征 2

208

Joubert syndrome-3

Joubert 综合征 3

209

Joubert syndrome 4

Joubert 综合征 4

210

Joubert syndrome 5

Joubert 综合征 5

211

Joubert syndrome 6

Joubert 综合征 6

212

Joubert syndrome 7

Joubert 综合征 7

213

Joubert syndrome 8

Joubert 综合征 8

214

Joubert syndrome 9

Joubert 综合征 9

215

Joubert syndrome 10

Joubert 综合征 10

216

Joubert syndrome 12

Joubert 综合征 12

217

Joubert syndrome 13

Joubert 综合征 13

218

Joubert syndrome 14

Joubert 综合征 14

219

Joubert syndrome 15

Joubert 综合征 15

220

Joubert syndrome 16

Joubert 综合征 16

221

Joubert syndrome 17

Joubert 综合征 17

222

Joubert syndrome 18

Joubert 综合征 18

223

Joubert syndrome 19

Joubert 综合征 19

224

Joubert syndrome 20

Joubert 综合征 20

225

Joubert syndrome 21

Joubert 综合征 21

226

Joubert Syndrome 24

Joubert 综合征 24

227

Meckel syndrome 1

Meckel综合征1

228

Meckel syndrome 2

Meckel综合征2

229

Meckel syndrome 3

Meckel综合征3

230

Meckel syndrome 4

Meckel综合征4

231

Meckel syndrome 5

Meckel综合征5

232

Meckel syndrome 6

Meckel综合征6

233

Meckel syndrome 7

Meckel综合征7

234

?Meckel syndrome 8

Meckel综合征8

235

Meckel syndrome 9

Meckel综合征9

236

Meckel syndrome 10

Meckel综合征10

237

Meckel syndrome 11

Meckel综合征11

238

Meckel syndrome 12

Meckel综合征12

239

Senior-Loken syndrome 1

Senior-Loken综合征 1

240

Senior-Loken syndrome 4

Senior-Loken综合征 4

241

Senior-Loken syndrome 5

Senior-Loken综合征 5

242

Senior-Loken syndrome 6

Senior-Loken综合征 6

243

Senior-Loken syndrome 7

Senior-Loken综合征 7

244

Senior-Loken syndrome 8

Senior-Loken综合征 8

245

Wolfram syndrome

Wolfram 综合征

246

Wolfram syndrome 2

Wolfram 综合征2

247

Galloway-Mowat syndrome

Galloway-Mowat综合征

248

Epstein syndrome

Epstein综合征

249

Fechtner syndrome

Fechtner综合征

250

Papillorenal syndrome

Papillorenal综合征

251

Lesch-Nyhan syndrome

Lesch-Nyhan综合征

252

Townes-Brocks syndrome

Townes-Brocks综合征

253

Ellis-van Creveld syndrome

Ellis-van Creveld综合症

254

Ellis-van Creveld syndrome

Ellis-van Creveld综合症

255

Alagille syndrome

Alagille综合征

256

Birt-Hogg-Dube syndrome

Birt-Hogg-Dube 综合征

257

Cornelia de Lange syndrome 1

Cornelia de Lange 综合征1

258

D-bifunctional protein deficiency

D-双功能蛋白缺乏症

259

Genitopatellar syndrome

Genitopatellar 综合征

260

Roberts syndrome

Roberts综合症

261

von Hippel-Lindau syndrome

Von Hippel-Lindau综合征

262

von Hippel-Lindau syndrome

Von Hippel-Lindau综合征

263

Mosaic variegated aneuploidy syndrome 1

斑花叶非整倍体综合症1

264

Simpson-Golabi-Behmel syndrome, type 1

过度生长综合征1

265

Spondylocarpotarsal synostosis syndrome

脊椎骨性结合综合征

266

Cranioectodermal dysplasia 1

颅骨外胚层发育不良1

267

Cranioectodermal dysplasia 2

颅骨外胚层发育不良2

268

Cranioectodermal dysplasia 3

颅骨外胚层发育不良3

269

Cranioectodermal dysplasia 4

颅骨外胚层发育不良4

270

Short-rib thoracic dysplasia 3 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 3

271

Short-rib thoracic dysplasia 4 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 4

272

Short-rib thoracic dysplasia 5 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 5

273

Short-rib thoracic dysplasia 6 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 6

274

Short-rib thoracic dysplasia 7 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 7

275

Short-rib thoracic dysplasia 8 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 8

276

Short-rib thoracic dysplasia 9 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 9

277

Short-rib thoracic dysplasia 10 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 10

278

Short-rib thoracic dysplasia 11 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 11

279

Short-rib thoracic dysplasia 13 with or without polydactyly

短肋胸廓发育不良伴或不伴多指畸形 13

280

Epidermolysis bullosa of hands and feet

手和脚大疱性表皮松解症

281

Epidermolysis bullosa, junctional, non-Herlitz type

交界型大疱性表皮松解症 非Herlitz

282

Epidermolysis bullosa, junctional, with pyloric atresia

交界型大疱性表皮松解症伴幽门闭锁

283

Nephropathy with pretibial epidermolysis bullosa and deafness

肾病伴胫骨前大疱性表皮松解和耳聋

284

Epilepsy, progressive myoclonic 4, with or without renal failure

进行性肌阵挛性癫痫 4型 伴或不伴肾衰

285

Coenzyme Q10 deficiency, primary, 1

CoQ10缺陷综合征 1型(COQ2)

286

Coenzyme Q10 deficiency, primary, 3

CoQ10缺陷综合征 3型(PDSS2)

287

Coenzyme Q10 deficiency, primary, 6

CoQ10缺陷综合征 6型(COQ6)

288

Congenital disorder of glycosylation, type Ia

先天性糖基化障碍 Ia

289

Congenital disorder of glycosylation, type Ik

先天性糖基化障碍 Ik

290

Vesicoureteral reflux 2

膀胱输尿管反流 2

291

Vesicoureteral reflux 3

膀胱输尿管反流 3

292

Vesicoureteral reflux 8

膀胱输尿管反流 8

293

Tuberous sclerosis 1

结节硬化症 1

294

Tuberous sclerosis 2

结节硬化症 2

295

Microphthalmia, syndromic 1

小眼球综合征 1

296

Microphthalmia, syndromic 2

小眼球综合征 2

297

Microphthalmia, syndromic 6

小眼球综合征 6

298

Microphthalmia, syndromic 9

小眼球综合征 9

299

Microphthalmia, isolated, with coloboma 8

小眼球 伴眼组织缺损 8

300

C1q deficiency

C1q缺陷症

301

C1q deficiency

C1q缺陷症

302

C1q deficiency

C1q缺陷症

303

C4a deficiency

C4a缺陷症

304

GM1-gangliosidosis, type I

GM1神经节苷脂贮积病1

305

Familial Mediterranean fever, AD

家族性地中海热  常显

306

Familial Mediterranean fever, AR

家族性地中海热  常隐

307

Amyloidosis, familial visceral

家族性内脏淀粉样变性

308

Amyloidosis, 3 or more types

淀粉样变性

309

Amyloidosis, renal

淀粉样变性

310

Hypoparathyroidism, sensorineural deafness, and renal dysplasia

甲状旁腺功能减退症 神经性耳聋 肾脏疾病综合征

311

Norum disease

Norum

312

Vasculopathy, retinal, with cerebral leukodystrophy

视网膜血管病变伴脑白质营养不良

313

Glycogen storage disease Ia

糖原累积症 Ia

314

Glycogen storage disease Ib

糖原累积症 Ib

315

Glycogen storage disease Ic

糖原累积症 Ic

316

Dysautonomia, familial

家族性自主神经功能障碍

317

Systemic lupus erythematosus susceptibility to

系统性红斑狼疮(易感)

318

Systemic lupus erythematosus susceptibility to

系统性红斑狼疮(易感)

319

Systemic lupus erythematosus susceptibility to

系统性红斑狼疮(易感)

320

Systemic lupus erythematosus susceptibility to

系统性红斑狼疮(易感)

321

Systemic lupus erythematosus susceptibility to

系统性红斑狼疮(易感)

322

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

323

Multiple congenital anomalies-hypotonia-seizures syndrome 3

多发性先天性畸形-张力减退-癫痫综合征 3

324

Beta-ureidopropionase deficiency

β-脲基丙酸酶缺乏症

325

Immunodeficiency due to purine nucleoside phosphorylase deficiency

嘌呤核苷磷酸化酶缺陷

326

Lysinuric protein intolerance

赖氨酸尿性蛋白耐受不良

327

Cystathioninuria

胱硫醚尿症

328

Xanthinuria, type I

黄嘌呤尿症 I

329

Hawkinsinuria

乙酸尿

330

Lipoid adrenal hyperplasia

类脂类先天性肾上腺皮质增生症

331

Mandibuloacral dysplasia with type B lipodystrophy

下颌骨末端发育不良症伴B型脂肪营养不良

332

?Deafness, X-linked 6

?耳聋 X连锁遗传 6

333

Schimke immunoosseous dysplasia

Schimke免疫-骨发育不良

334

Fabry disease

法布里病

335

Nail-patella syndrome

甲髌综合征

336

Complement factor H deficiency

补体H因子缺乏

337

Complement factor I deficiency

补体I因子缺乏

338

C3 deficiency

C3 缺乏

339

Thrombotic thrombocytopenic purpura, familial

家族性血栓性血小板减少性紫癜

340

Phosphoribosylpyrophosphate synthetase superactivity

磷酸核糖焦磷酸合成酶活性亢进

341

Glomerulopathy with fibronectin deposits 2

纤维连接蛋白沉积肾小球病

342

Adenine phosphoribosyltransferase deficiency

腺嘌呤磷酸核糖基转移酶缺乏

343

Sialic acid storage disorder, infantile

婴儿唾液酸贮积症

344

Mitochondrial complex III deficiency, nuclear type 1

线粒体复合物III缺陷 细胞核型1

 

 

 

 

 

  • 北京康旭医学检验所公众号
  • 人类遗传病基因查询平台

010-82444060-6009

地址:北京市海淀区杏石口路益园文化创意产业基地C区10号楼4层

关于康旭| 康旭医学| 康旭健康| 康旭科技| 康旭培训| 加入康旭

Copyright © 2017 Kangso.net All Right Reserved | Designed by QiLu北ICP备14012994号-1