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HEREDITARY DISEASE DETECTION遗传病检测

遗传性耳聋


遗传性耳聋检测包共收录与遗传性耳聋相关176个基因,232种疾病。如:遗传性耳聋、Alport综合征、Usher综合征、Waardenburg综合征等。


主要疾病如下:

1

Deafness, X-linked 1

遗传性耳聋 X连锁 1

2

Deafness, X-linked 2

遗传性耳聋 X连锁 2

3

Deafness, X-linked 4

遗传性耳聋 X连锁 4

4

Deafness, X-linked 6

遗传性耳聋 X连锁 6

5

Deafness, autosomal dominant 1

遗传性耳聋 常染色体显性 1

6

Deafness, autosomal dominant 2A

遗传性耳聋 常染色体显性 2A

7

Deafness, autosomal dominant 2B

遗传性耳聋 常染色体显性 2B

8

Deafness, autosomal dominant 3A

遗传性耳聋 常染色体显性 3A

9

Deafness, autosomal dominant 3B

遗传性耳聋 常染色体显性 3B

10

Deafness, autosomal dominant 4A

遗传性耳聋 常染色体显性 4A

11

Deafness, autosomal dominant 4B

遗传性耳聋 常染色体显性 4B

12

Deafness, autosomal dominant 5

遗传性耳聋 常染色体显性 5

13

Deafness, autosomal dominant 6

遗传性耳聋 常染色体显性 6

14

Deafness, autosomal dominant 8

遗传性耳聋 常染色体显性 8

15

Deafness, autosomal dominant 9

遗传性耳聋 常染色体显性 9

16

Deafness, autosomal dominant 10

遗传性耳聋 常染色体显性 10

17

Deafness, autosomal dominant 11

遗传性耳聋 常染色体显性 11

18

Deafness, autosomal dominant 12

遗传性耳聋 常染色体显性 12

19

Deafness, autosomal dominant 13

遗传性耳聋 常染色体显性 13

20

Deafness, autosomal dominant 14

遗传性耳聋 常染色体显性 14

21

Deafness, autosomal dominant 15

遗传性耳聋 常染色体显性 15

22

Deafness, autosomal dominant 17

遗传性耳聋 常染色体显性 17

23

Deafness, autosomal dominant 20

遗传性耳聋 常染色体显性 20

24

Deafness, autosomal dominant 22

遗传性耳聋 常染色体显性 22

25

Deafness, autosomal dominant 23

遗传性耳聋 常染色体显性 23

26

Deafness, autosomal dominant 25

遗传性耳聋 常染色体显性 25

27

Deafness, autosomal dominant 26

遗传性耳聋 常染色体显性 26

28

Deafness, autosomal dominant 28

遗传性耳聋 常染色体显性 28

29

Deafness, autosomal dominant 36

遗传性耳聋 常染色体显性 36

30

Deafness, autosomal dominant 38

遗传性耳聋 常染色体显性 38

31

Deafness, autosomal dominant 40

遗传性耳聋 常染色体显性 40

32

Deafness, autosomal dominant 41

遗传性耳聋 常染色体显性 41

33

Deafness, autosomal dominant 56

遗传性耳聋 常染色体显性 56

34

Deafness, autosomal dominant 64

遗传性耳聋 常染色体显性 64

35

Deafness, autosomal dominant 65

耳聋 常染色体显性遗传  65

36

Deafness, autosomal dominant, with peripheral neuropathy

耳聋伴周围神经病,常染色体显性遗传

37

Deafness, autosomal recessive 2

遗传性耳聋 常染色体隐性 2

38

Deafness, autosomal recessive 3

遗传性耳聋 常染色体隐性 3

39

Deafness, autosomal recessive 4

遗传性耳聋 常染色体隐性 4

40

Deafness, autosomal recessive 6

遗传性耳聋 常染色体隐性 6

41

Deafness, autosomal recessive 7

遗传性耳聋 常染色体隐性 7

42

Deafness, autosomal recessive 8

遗传性耳聋 常染色体隐性 8

43

Deafness, autosomal recessive 9

遗传性耳聋 常染色体隐性 9

44

Deafness, autosomal recessive 1A

遗传性耳聋 常染色体隐性 1A

45

Deafness, autosomal recessive 1B

遗传性耳聋 常染色体隐性 1B

46

Deafness, autosomal recessive 10

遗传性耳聋 常染色体隐性 10

47

Deafness, autosomal recessive 12

遗传性耳聋 常染色体隐性 12

48

Deafness, autosomal recessive 12

遗传性耳聋 常染色体隐性 12

49

Deafness, autosomal recessive 15

遗传性耳聋 常染色体隐性 15

50

Deafness, autosomal recessive 16

遗传性耳聋 常染色体隐性 16

51

Deafness, autosomal recessive 18A

遗传性耳聋 常染色体隐性 18A

52

Deafness, autosomal recessive 18B

遗传性耳聋 常染色体隐性 18B

53

Deafness, autosomal recessive 21

遗传性耳聋 常染色体隐性 21

54

Deafness, autosomal recessive 22

遗传性耳聋 常染色体隐性 22

55

Deafness, autosomal recessive 23

遗传性耳聋 常染色体隐性 23

56

Deafness, autosomal recessive 24

遗传性耳聋 常染色体隐性 24

57

Deafness, autosomal recessive 28

遗传性耳聋 常染色体隐性 28

58

Deafness, autosomal recessive 29

遗传性耳聋 常染色体隐性 29

59

Deafness, autosomal recessive 30

遗传性耳聋 常染色体隐性 30

60

Deafness, autosomal recessive 31

遗传性耳聋 常染色体隐性 31

61

Deafness, autosomal recessive 35

遗传性耳聋 常染色体隐性 35

62

Deafness, autosomal recessive 36

遗传性耳聋 常染色体隐性 36

63

Deafness, autosomal recessive 37

遗传性耳聋 常染色体隐性 37

64

Deafness, autosomal recessive 39

遗传性耳聋 常染色体隐性 39

65

Deafness, autosomal recessive 42

遗传性耳聋 常染色体隐性 42

66

Deafness, autosomal recessive 48

遗传性耳聋 常染色体隐性 48

67

Deafness, autosomal recessive 49

遗传性耳聋 常染色体隐性 49

68

Deafness, autosomal recessive 53

遗传性耳聋 常染色体隐性 53

69

Deafness, autosomal recessive 59

遗传性耳聋 常染色体隐性 59

70

Deafness, autosomal recessive 61

遗传性耳聋 常染色体隐性 61

71

Deafness, autosomal recessive 63

遗传性耳聋 常染色体隐性 63

72

Deafness, autosomal recessive 67

遗传性耳聋 常染色体隐性 67

73

Deafness, autosomal recessive 70

遗传性耳聋 常染色体隐性 70

74

Deafness, autosomal recessive 74

遗传性耳聋 常染色体隐性 74

75

Deafness, autosomal recessive 77

遗传性耳聋 常染色体隐性 77

76

Deafness, autosomal recessive 79

遗传性耳聋 常染色体隐性 79

77

Deafness, autosomal recessive 84A

遗传性耳聋 常染色体隐性 84A

78

Deafness, autosomal recessive 84B

遗传性耳聋 常染色体隐性 84B

79

Deafness, autosomal recessive 86

遗传性耳聋 常染色体隐性 86

80

Deafness, autosomal recessive 88

遗传性耳聋 常染色体隐性 88

81

Deafness, autosomal recessive 91

遗传性耳聋 常染色体隐性 91

82

Deafness, autosomal recessive 25

耳聋 常染色体隐性遗传25

83

Deafness, autosomal dominant 39, with dentinogenesis

耳聋 常染色体显性遗传39

84

?Deafness, autosomal dominant 44

?耳聋 常染色体显性遗传44

85

Deafness, autosomal recessive 76

耳聋 常染色体隐性遗传76

86

Deafness, autosomal recessive 89

耳聋 常染色体隐性遗传89

87

Deafness, autosomal recessive 93

耳聋 常染色体隐性遗传93

88

Deafness, autosomal recessive 98

耳聋 常染色体隐性遗传98

89

?Deafness, autosomal recessive 103

?耳聋 常染色体隐性遗传103

90

Deafness, autosomal recessive

耳聋 常染色体隐性遗传

91

Deafness, congenital heart defects, and posterior embryotoxon

耳聋 先天性心脏病和后胚胎环

92

Sinoatrial node dysfunction and deafness

窦房结功能障碍和耳聋

93

Epiphyseal dysplasia, multiple, with myopia and deafness

多发性骨骺发育不良伴近视和耳聋

94

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

多神经病、听力损失、共济失调、视网膜色素变性和白内障

95

{Deafness, mitochondrial, modifier of}

{线粒体耳聋,修饰型}

96

Hypoparathyroidism, sensorineural deafness, and renal dysplasia

甲状旁腺功能减退症 感音神经性耳聋和肾发育不良

97

Corneal endothelial dystrophy and perceptive deafness

角膜内皮营养不良和感音神经性耳聋

98

Nephropathy with pretibial epidermolysis bullosa and deafness

肾病伴胫骨前大疱性表皮松解和耳聋

99

Renal tubular acidosis with deafness

肾小管酸中毒伴耳聋

100

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness

视网膜色素变性 X连锁遗传和sinorespiratory感染伴或不伴耳聋

101

?Split-hand/foot malformation 1 with sensorineural hearing loss

?手足裂畸形伴感觉神经性耳聋 1

102

Auditory neuropathy, autosomal dominant, 1

听神经病 常染色体显性遗传 1

103

Sensorineural deafness with mild renal dysfunction

感音神经性耳聋伴轻度肾功能紊乱

104

Deafness, congenital with inner ear agenesis, microtia, and microdontia

先天性耳聋,伴内耳发育不全,小耳畸形和小牙畸形

105

?Microtia, hearing impairment, and cleft palate (AR)

?先天性小耳畸形、听力障碍、腭裂(AR

106

?Microtia with or without hearing impairment (AD)

?先天性小耳畸形或无听力障碍(AD

107

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant

小脑共济失调、耳聋和发作性嗜睡病,常染色体显性遗传

108

Deafness and myopia

遗传性耳聋伴近视

109

Keratoderma, palmoplantar, with deafness

掌跖角皮病伴耳聋

110

{Retinal disease in Usher syndrome type IIA, modifier of}

{Usher综合征IIA型中的视网膜病,修饰型}

111

Deafness, neurosensory, without vestibular involvement, autosomal dominant

感应神经性耳聋不伴前庭受累,常染色体显性遗传

112

Hystrix-like ichthyosis with deafness

高起性鱼鳞病伴耳聋

113

Keratitis-ichthyosis-deafness syndrome

角膜炎-鱼鳞病-耳聋综合征

114

Wolfram-like syndrome, autosomal dominant

Wolfram综合征,常染色体显性遗传

115

?Peripheral neuropathy, myopathy, hoarseness, and hearing loss

?周围神经病、肌病、声嘶和听力损失

116

ABCD syndrome

ABCD综合征

117

Alport syndrome, X-link

Alport综合征 X连锁

118

Alport syndrome, autosomal dominant

Alport综合征 常染色体显性

119

Alport syndrome, autosomal recessive

Alport综合征 常染色体隐性

120

Alport syndrome, autosomal recessive

Alport综合征 常染色体隐性

121

Arts syndrome

Arts综合征

122

Bart-Pumphrey syndrome

Bart-Pumphrey综合征

123

DOOR syndrome

DOOR综合征

124

Epstein syndrome

Epstein综合征

125

Fechtner syndrome

Fechtner综合征

126

PCWH syndrome

PCWH综合征

127

Pendred syndrome

Pendred综合征

128

Refsum disease

Refsum

129

Stickler syndrome, type III

Stickler综合征,III

130

Tietz albinism-deafness syndrome

Tietz白化病-耳聋综合征

131

Treacher Collins syndrome 1

Treacher Collins综合征 1

132

Treacher Collins syndrome 2

Treacher Collins综合征 2

133

Treacher Collins syndrome 3

Treacher Collins综合征 3

134

Usher syndrome, type 1B

Usher综合征 1B

135

Usher syndrome, type 1C

Usher综合征 1C

136

Usher syndrome, type 1D

Usher综合征 1D

137

Usher syndrome, type 1G

Usher综合征 1G

138

Usher syndrome, type 1J

Usher综合征 1J

139

Usher syndrome, type 2A

Usher综合征 2A

140

Usher syndrome, type 2C

Usher综合征 2C

141

Usher syndrome, type IIC, GPR98/PDZD7 digenic

Usher综合征 2C

142

Usher syndrome, type 3A

Usher综合征 3A

143

Usher syndrome, type 1D/F

Usher综合征,1D/F

144

Vohwinkel syndrome

Vohwinkel综合征

145

Waardenburg syndrome, type 1

Waardenburg综合征 1

146

Waardenburg syndrome, type 2A

Waardenburg综合征 2A

147

Waardenburg syndrome, type 2E

Waardenburg综合征 2E

148

Waardenburg syndrome, type 3

Waardenburg综合征 3

149

Waardenburg syndrome, type 4A

Waardenburg综合征 4A

150

Waardenburg syndrome, type 4B

Waardenburg综合征 4B

151

Waardenburg syndrome, type 4C

Waardenburg综合征 4C

152

Waardenburg syndrome/ocular albinism, digenic

Waardenburg综合征/眼白化病

153

Weissenbacher-Zweymuller syndrome

Weissenbacher-Zweymuller综合征

154

Wolfram syndrome

Wolfram综合征

155

3MC syndrome 1

3MC综合征 1

156

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Antley-Bixler综合征不伴外生殖器畸形或病态类固醇合成

157

Apert syndrome

Apert综合征(即尖头并指综合征)

158

Rieger or Axenfeld anomalies

Axenfeld-Rieger综合征

159

Axenfeld-Rieger syndrome, type 1

Axenfeld-Rieger综合征 1

160

Axenfeld-Rieger syndrome, type 3

Axenfeld-Rieger综合征 3

161

Baraitser-Winter syndrome 1

Baraitser-Winter综合征 1

162

Bartter syndrome, type 1

Bartter综合征 1

163

Bartter syndrome, type 4a

Bartter综合征 4a

164

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann综合征

165

Bjornstad syndrome

Bjornstad综合征

166

Branchiooculofacial syndrome

branchiooculofacial综合征

167

Branchiootorenal syndrome 2

branchiootorenal综合征2

168

CATSHL syndrome

CATSHL综合征

169

Chanarin-Dorfman syndrome

Chanarin-Dorfman综合征

170

CHARGE syndrome

CHARGE综合征

171

?CHARGE syndrome

?CHARGE综合征

172

Chudley-McCullough syndrome

Chudley McCullough综合征

173

Coffin-Lowry syndrome

Coffin-Lowry综合征

174

Duane-radial ray syndrome

Duane-radial ray综合征

175

IMAGE syndrome

IMAGE综合征

176

IVIC syndrome

IVIC综合征

177

Jervell and Lange-Nielsen syndrome

JervellLange-Nielsen综合征

178

Jervell and Lange-Nielsen syndrome 2

JervellLange-Nielsen综合征 2

179

LADD syndrome

LADD综合征

180

LADD syndrome

LADD综合征

181

Marshall syndrome

Marshall综合征

182

Mohr-Tranebjaerg syndrome

Mohr-Tranebjaerg综合征

183

Muckle-Wells syndrome

Muckle-Wells综合征

184

Muenke syndrome

Muenke综合征

185

Norrie disease

Norrie

186

Perrault syndrome 1

Perrault综合征 1

187

?Perrault syndrome 2

?Perrault综合征 2

188

Perrault syndrome 4

Perrault综合征 4

189

Saethre-Chotzen syndrome

Saethre-Chotzen综合征

190

SESAME syndrome

SESAME综合征

191

Stickler syndrome, type II

Stickler综合征 II

192

Stickler syndrome, type IV

Stickler综合征 IV

193

?Stickler syndrome, type V

?Stickler综合征 V

194

Temtamy preaxial brachydactyly syndrome

Temtamy轴前短指症综合征

195

Townes-Brocks branchiootorenal-like syndrome

Townes-Brocks综合征,腮--肾样综合征

196

Usher syndrome type 3B

Usher综合征 3B

197

Waardenburg syndrome, type 2D

Waardenburg综合征 2D

198

Waardenburg syndrome/albinism, digenic

Waardenburg综合征/白化病

199

Wolfram syndrome 2

Wolfram综合征 2

200

?Otofaciocervical syndrome

?耳面颈综合征

201

Crouzon syndrome

克鲁宗综合征

202

Thiamine-responsive megaloblastic anemia syndrome

硫胺素敏感性巨幼红细胞性贫血综合征

203

Mucopolysaccharidosis type VI (Maroteaux-Lamy)

黏多糖病 VI型(Maroteaux-Lamy综合征)

204

Long QT syndrome 5

QT综合征 5

205

LADD syndrome

十二指肠狭窄综合征

206

Histiocytosis-lymphadenopathy plus syndrome

组织细胞增生症加淋巴细胞肿大综合征

207

Alstrom syndrome

阿尔斯特雷姆综合征

208

Branchiootic syndrome 1

-耳综合征 1

209

Otopalatodigital syndrome, type I

耳腭指综合征 I

210

Otopalatodigital syndrome, type II

耳腭指综合征 II

211

Hypogonadotropic hypogonadism 2 with or without anosmia

低促性腺激素性性腺功能减退(2型)伴或不伴嗅觉缺失症

212

Hypogonadotropic hypogonadism 3 with or without anosmia

低促性腺激素性性腺功能减退(3型)伴或不伴嗅觉缺失症

213

Frontonasal dysplasia 1

额鼻发育不良1

214

Mannosidosis, beta

甘露糖苷贮积症 β型

215

Trichothiodystrophy 1, photosensitive

感光性毛发硫营养不良 1

216

D-bifunctional protein deficiency

D-双功能蛋白缺乏

217

Kniest dysplasia

Kniest发育不良

218

Cholestasis, progressive familial intrahepatic 4

进行性家族性肝内胆汁淤积症 4

219

Glomerulosclerosis, focal segmental, 6

局灶节段性肾小球硬化症 6

220

Pituitary hormone deficiency, combined, 3

联合性垂体激素缺乏症 3

221

Biotinidase deficiency

生物素酶缺乏

222

Mitochondrial complex III deficiency, nuclear type 1

线粒体复合物III缺乏 第1核型

223

Charcot-Marie-Tooth disease, type 1E

腓骨肌萎缩症 1E

224

Craniometaphyseal dysplasia

颅骨干骺端发育不良

225

Craniometaphyseal dysplasia, autosomal recessive

颅骨干骺端发育不良,常染色体隐性遗传

226

Epiphyseal dysplasia, multiple, 3

多发性骨骺发育不良 3

227

Oculodentodigital dysplasia

眼齿指发育不良

228

Piebaldism

斑驳病

229

Perrault syndrome 3

佩诺特征3

230

Neuropathy, hereditary sensory, type IE

遗传性感觉神经病 IE

231

Enlarged vestibular aqueduct

前庭水管扩大

232

Enlarged vestibular aqueduct, digenic

前庭导水管扩大

233

Neurofibromatosis, type 2

神经纤维瘤病 2

234

Facial paresis, hereditary congenital, 3

面神经麻痹 先天性 3

235

Xeroderma pigmentosum, group B

着色性干皮病 B

236

Xeroderma pigmentosum, group D

着色性干皮病 D

 

 

 

 

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