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HEREDITARY DISEASE DETECTION遗传病检测

遗传性眼病

 

该检测包收录已报道各类遗传性眼病相关的共计279个致病基因,404种疾病。主要包括视网膜色素变性、结晶状视网膜病变、眼底黄斑症、视锥细胞营养不良与视锥杆细胞营养不良等。


主要疾病如下:

1

Retinitis pigmentosa 1

视网膜色素变性1

2

Retinitis pigmentosa 2

视网膜色素变性2

3

Retinitis pigmentosa 3

视网膜色素变性3

4

Retinitis pigmentosa 4, autosomal dominant or recessive

视网膜色素变性4型 常显或常隐

5

Retinitis pigmentosa 7, digenic

视网膜色素变性7

6

Retinitis pigmentosa 7, digenic

视网膜色素变性7

7

?Retinitis pigmentosa 9

视网膜色素变性9

8

Retinitis pigmentosa 10

视网膜色素变性10

9

Retinitis pigmentosa 11

视网膜色素变性11

10

Retinitis pigmentosa-12, autosomal recessive

视网膜色素变性12型 常隐

11

Retinitis pigmentosa 13

视网膜色素变性13

12

Retinitis pigmentosa 14

视网膜色素变性14

13

Retinitis pigmentosa 17

视网膜色素变性17

14

Retinitis pigmentosa 18

视网膜色素变性18

15

Retinitis pigmentosa 19

视网膜色素变性19

16

Retinitis pigmentosa 20

视网膜色素变性20

17

?Retinitis pigmentosa 23

视网膜色素变性23

18

Retinitis pigmentosa 25

视网膜色素变性25

19

Retinitis pigmentosa 26

视网膜色素变性26

20

Retinitis pigmentosa 27

视网膜色素变性27

21

Retinitis pigmentosa 28

视网膜色素变性28

22

Retinitis pigmentosa 30

视网膜色素变性30

23

Retinitis pigmentosa 31

视网膜色素变性31

24

Retinitis pigmentosa 33

视网膜色素变性33

25

Retinitis pigmentosa 35

视网膜色素变性35

26

Retinitis pigmentosa 36

视网膜色素变性36

27

Retinitis pigmentosa 37

视网膜色素变性37

28

Retinitis pigmentosa 38

视网膜色素变性38

29

Retinitis pigmentosa 39

视网膜色素变性39

30

Retinitis pigmentosa-40

视网膜色素变性40

31

Retinitis pigmentosa 41

视网膜色素变性41

32

Retinitis pigmentosa 42

视网膜色素变性42

33

Retinitis pigmentosa 43

视网膜色素变性43

34

Retinitis pigmentosa 44

视网膜色素变性44

35

Retinitis pigmentosa 45

视网膜色素变性45

36

Retinitis pigmentosa 46

视网膜色素变性46

37

Retinitis pigmentosa 47

视网膜色素变性47

38

Retinitis pigmentosa 48

视网膜色素变性48

39

Retinitis pigmentosa 49

视网膜色素变性49

40

Retinitis pigmentosa-50

视网膜色素变性50

41

?Retinitis pigmentosa 51

视网膜色素变性51

42

Retinitis pigmentosa 54

视网膜色素变性54

43

?Retinitis pigmentosa 55

视网膜色素变性55

44

Retinitis pigmentosa 56

视网膜色素变性56

45

Retinitis pigmentosa 57

视网膜色素变性57

46

Retinitis pigmentosa 58

视网膜色素变性58

47

Retinitis pigmentosa 59

视网膜色素变性59

48

Retinitis pigmentosa 60

视网膜色素变性60

49

Retinitis pigmentosa 61

视网膜色素变性61

50

Retinitis pigmentosa 62

视网膜色素变性62

51

Retinitis pigmentosa 64

视网膜色素变性64

52

Retinitis pigmentosa 65

视网膜色素变性65

53

?Retinitis pigmentosa 66

视网膜色素变性66

54

Retinitis pigmentosa 68

视网膜色素变性68

55

Retinitis pigmentosa 69

视网膜色素变性69

56

Retinitis pigmentosa 70

视网膜色素变性70

57

Retinitis pigmentosa 72

视网膜色素变性72

58

Retinitis pigmentosa 74

视网膜色素变性74

59

Retinitis pigmentosa, juvenile

青年型视网膜色素变性

60

Retinitis pigmentosa, juvenile

青年型视网膜色素变性

61

Retinitis pigmentosa, juvenile, autosomal recessive

青年型视网膜色素变性 常染色体隐性

62

Retinitis pigmentosa, concentric

视网膜色素变性

63

Retinal degeneration, autosomal recessive, clumped pigment type

视网膜变性 常染色体隐性遗传 色素变性聚集型

64

Retinitis pigmentosa with or without situs inversus

视网膜色素变性 伴或不伴逆位

65

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

视网膜色素变性 X连锁 呼吸道感染伴或不伴耳聋

66

Retinal dystrophy, early-onset severe

视网膜营养不良 早发型 加重

67

?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities

?视网膜营养性萎缩症 伴视网膜功能障碍神经节细胞异常

68

Ataxia, posterior column, with retinitis pigmentosa

后柱型共济失调 伴视网膜色素变性

69

Late-onset retinal degeneration

迟发性视网膜变性

70

Snowflake vitreoretinal degeneration

Snowflake玻璃体视网膜变性

71

Bietti crystalline corneoretinal dystrophy

结晶状视网膜病变

72

Macular dystrophy, vitelliform, 2

卵黄样黄斑营养不良(Best病)2

73

Macular dystrophy, vitelliform, 3

卵黄样黄斑营养不良(Best病)3

74

Macular dystrophy, vitelliform, 5

卵黄样黄斑营养不良(Best病)5

75

Macular dystrophy, patterned, 1

黄斑营养不良 图案型 1

76

Macular dystrophy, retinal, 2

视网膜黄斑营养不良 2

77

Occult macular dystrophy

隐匿性黄斑营养不良

78

Macular dystrophy with central cone involvement

黄斑营养不良 伴中央椎细胞牵连

79

Stargardt disease 1

眼底黄斑症 1

80

Stargardt disease 3

眼底黄斑症 3

81

Stargardt disease 4

眼底黄斑症 4

82

Cone-rod dystrophy

视锥细胞营养不良与视锥杆细胞营养不良

83

Cone-rod dystrophy

视锥细胞营养不良与视锥杆细胞营养不良

84

Cone-rod dystrophy, X-linked, 1

视锥细胞营养不良与视锥杆细胞营养不良 1 X连锁

85

Cone-rod dystrophy 3

视锥细胞营养不良与视锥杆细胞营养不良 3

86

Cone-rod dystrophy, X-linked, 3

视锥细胞营养不良与视锥杆细胞营养不良 3 X连锁

87

Cone-rod dystrophy 5

视锥细胞营养不良与视锥杆细胞营养不良 5

88

Cone-rod dystrophy 6

视锥细胞营养不良与视锥杆细胞营养不良 6

89

Cone-rod dystrophy 7

视锥细胞营养不良与视锥杆细胞营养不良 7

90

Cone-rod dystrophy 9

视锥细胞营养不良与视锥杆细胞营养不良 9

91

Cone-rod dystrophy 10

视锥细胞营养不良与视锥杆细胞营养不良 10

92

Cone-rod dystrophy 11

视锥细胞营养不良与视锥杆细胞营养不良 11

93

Cone-rod dystrophy 12

视锥细胞营养不良与视锥杆细胞营养不良 12

94

Cone-rod dystrophy 13

视锥细胞营养不良与视锥杆细胞营养不良 13

95

Cone-rod dystrophy 14

视锥细胞营养不良与视锥杆细胞营养不良 14

96

Cone-rod dystrophy 15

视锥细胞营养不良与视锥杆细胞营养不良 15

97

Cone-rod dystrophy 16

视锥细胞营养不良与视锥杆细胞营养不良 16

98

Cone-rod dystrophy 18

视锥细胞营养不良与视锥杆细胞营养不良 18

99

Cone-rod dystrophy 19

视锥细胞营养不良与视锥杆细胞营养不良 19

100

Spondylometaphyseal dysplasia with cone-rod dystrophy

视锥细胞营养不良 伴脊椎干骺端发育不良

101

Cone-rod retinal dystrophy-2

视锥细胞营养不良与视锥杆膜细胞营养不良 2

102

Cone-rod synaptic disorder, congenital nonprogressive

先天性锥杆突触紊乱

103

Newfoundland rod-cone dystrophy

纽芬兰视锥细胞营养不良与视锥杆膜细胞营养不良

104

Cone dystrophy-3

视锥细胞营养不良 3

105

Cone dystrophy 4

视锥细胞营养不良 4

106

Retinal cone dystrophy 3

视网膜视锥细胞营养不良 3

107

Retinal cone dystrophy 3B

视网膜视锥细胞营养不良 3B

108

Retinal cone dystrophy 4

视网膜视锥细胞营养不良 4

109

Achromatopsia-2

视杆细胞单色视盲(全色盲)2

110

Achromatopsia-3

视杆细胞单色视盲(全色盲)3

111

Achromatopsia-4 

视杆细胞单色视盲(全色盲)4

112

Achromatopsia 6

视杆细胞单色视盲(全色盲)6

113

Enhanced S cone syndrome

S视锥增强综合征(增强的短波长-椎体综合征)

114

Gyrate atrophy

视网膜和脉络膜环状萎缩和伴或不伴鸟氨酸血症

115

Retinal dystrophy, early-onset severe

早发型重度视网膜营养性萎缩症

116

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

小角膜 视锥-视杆细胞营养不良 白内障和后巩膜葡萄肿

117

Choriodal dystrophy, central areolar 2

中心晕轮状脉络膜营养不良 2

119

Retinoschisis

青少年视网膜劈裂

120

Night blindness, congenital stationary, autosomal dominant 1

先天性静止性夜盲

121

Night blindness, congenital stationary, autosomal dominant 2

先天性静止性夜盲

122

Night blindness, congenital stationary, autosomal dominant 3

先天性静止性夜盲

123

Night blindness, congenital stationary (complete), 1A, X-linked

先天性静止性夜盲1A X连锁

124

Night blindness, congenital stationary (complete), 1B, autosomal recessive

先天性静止性夜盲1B型 常隐

125

Night blindness, congenital stationary (complete), 1C, autosomal recessive

先天性静止性夜盲1C型 常隐

126

Night blindness, congenital stationary (complete), 1E, autosomal recessive

先天性静止性夜盲1E型 常隐

127

Night blindness, congenital stationary (complete), 1F, autosomal recessive

先天性静止性夜盲1F型 常隐

128

?Night blindness, congenital stationary, type 1G

先天性静止性夜盲1G

129

Night blindness, congenital stationary (incomplete), 2A, X-linked

先天性静止性夜盲2A X连锁

130

Optic atrophy 1

遗传性视神经萎缩1

131

Optic atrophy 3 with cataract

遗传性视神经萎缩3型伴白内障

132

Optic atrophy 7

遗传性视神经萎缩7

133

Optic atrophy plus syndrome

视神经萎缩附加综合征

134

{Macular degeneration, age-related, 1}

先天性黄斑变性1型 年龄相关的

135

{Macular degeneration, age-related, 2}

先天性黄斑变性2型 年龄相关的

136

Macular degeneration, age-related, 3

先天性黄斑变性3型 年龄相关的

137

?Macular degeneration, age-related, 6

先天性黄斑变性6型 年龄相关的

138

{Macular degeneration, age-related, 13, susceptibility to}

先天性黄斑变性13型 年龄相关的 易感性

139

Neuropathy, hereditary, with or without age-related macular degeneration

神经病变 遗传性 伴或不伴年龄相关性黄斑变性

140

Ectodermal dysplasia, ectrodactyly, and macular dystrophy

外胚层发育不良 先天性缺指 黄斑营养不良

141

Hypotrichosis, congenital, with juvenile macular dystrophy

先天性少毛症 青少年黄斑营养不良

142

Optic disc anomalies with retinal and/or macular dystrophy

视神经乳头异常 伴视网膜和/或黄斑营养不良

143

Leber congenital amaurosis 1

Leber先天性黑曚1

144

Leber congenital amaurosis 2

Leber先天性黑曚2

145

Leber congenital amaurosis 3

Leber先天性黑曚3

146

Leber congenital amaurosis 4

Leber先天性黑曚4

147

Leber congenital amaurosis 5

Leber先天性黑曚5

148

Leber congenital amaurosis 6

Leber先天性黑曚6

149

Leber congenital amaurosis 7

Leber先天性黑曚7

150

Leber congenital amaurosis 8

Leber先天性黑曚8

151

Leber congenital amaurosis 9

Leber先天性黑曚9

152

Leber congenital amaurosis 10

Leber先天性黑曚10

153

Leber congenital amaurosis 11

Leber先天性黑曚11

154

Leber congenital amaurosis 12

Leber先天性黑曚12

155

Leber congenital amaurosis 13

Leber先天性黑曚13

156

Leber congenital amaurosis 14

Leber先天性黑曚14

157

Leber congenital amaurosis 15

Leber先天性黑曚15

158

Leber congenital amaurosis 16

Leber先天性黑曚16

159

Leber congenital amaurosis 17

Leber先天性黑曚17

160

Leber congenital amaurosis 18

Leber先天性黑曚18

161

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2

肌营养不良症(先天性大脑和眼睛异常)A 2

162

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

肌营养不良症(先天性大脑和眼睛异常)A 3

163

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

肌营养不良症(先天性大脑和眼睛异常)A 4

164

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14

肌营养不良症(先天性大脑和眼睛异常)A 14

165

Retinitis punctata albescens

白点状视网膜变性

166

Retinitis punctata albescens

白点状视网膜变性

167

Retinitis punctata albescens

白点状视网膜变性

168

Epiphyseal dysplasia, multiple, with myopia and deafness

多发性骨骺发育不良伴近视和耳聋

169

Vitreoretinopathy with phalangeal epiphyseal dysplasia

玻璃体视网膜病变伴指骨骨骺发育不良

170

Autosomal-dominant vitreoretinochoroidopathy 

常染色体显性玻璃体视网膜脉络膜病变

171

Incontinentia pigmenti, familial

色素失禁症

172

Malattia leventinese or  Doyne honeycomb retinal dystrophy (DHRD)

Malattia leventinese黄斑营养不良或Doyne蜂窝状视网膜营养不良(家族性玻璃膜疣)

173

Fundus albipunctatus

眼底白色斑点(白点状眼底)

174

Fundus albipunctatus

眼底白色斑点(白点状眼底)

175

Sorsby pseudoinflammatory fundus dystrophy

Sorsby假炎性黄斑营养不良

176

Choroideremia

无脉络膜症

177

Albinism, oculocutaneous, type IV

眼皮肤白化病 IV

178

Albinism, oculocutaneous, type III

眼皮肤白化病 III

179

Albinism, oculocutaneous, type IB

眼皮肤白化病 IB

180

Albinism, oculocutaneous, type IA

眼皮肤白化病 IA

181

Albinism, oculocutaneous, type II

眼皮肤白化病 II

182

Albinism, brown oculocutaneous

褐色眼皮肤白化病

183

Albinism, oculocutaneous, type VI

眼皮肤白化病 VI 

184

Pigmented paravenous chorioretinal atrophy

静脉旁色素型脉络膜视网膜萎缩

185

Retinopathy of prematurity

早产儿视网膜病变

186

Exudative vitreoretinopathy 1

家族性渗出性玻璃体视网膜病变 1

187

Exudative vitreoretinopathy 2, X-linked

家族性渗出性玻璃体视网膜病变 2 X连锁

188

Exudative vitreoretinopathy 4

家族性渗出性玻璃体视网膜病变 4

189

Exudative vitreoretinopathy 5

家族性渗出性玻璃体视网膜病变 5

190

?Exudative vitreoretinopathy 6

家族性渗出性玻璃体视网膜病变 6

191

Glaucoma 1, open angle, E

开角E型青光眼 1

192

Glaucoma 1, open angle, F

开角F型青光眼 1 

193

Glaucoma 1, open angle, G

开角G型青光眼 1 

194

Glaucoma 1, open angle, 1O

开角1O型青光眼 1 

195

Glaucoma 1A, primary open angle

开角型青光眼 1A

196

Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset

先天性的青少年或成人发病原发性开角型青光眼 3A

197

Glaucoma 3, primary congenital, D

原发性先天性D型青光眼 3 

198

Iris hypoplasia and glaucoma

虹膜发育不全和青光眼

199

{Glaucoma, normal tension, susceptibility to}

正常眼压性青光眼 易感性

200

{Glaucoma, normal tension, susceptibility to}

正常眼压性青光眼 易感性

201

Bothnia retinal dystrophy 

Bothnia视网膜营养不良

202

Progressive external ophthalmoplegia, autosomal recessive 1

进行性眼外肌麻痹 1型 常隐

203

Progressive external ophthalmoplegia, autosomal dominant 1

进行性眼外肌麻痹 1型 常显

204

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

进行性眼外肌麻痹 2型 伴mtDNA缺失 常显

205

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

进行性眼外肌麻痹 3型 伴mtDNA缺失 常显

206

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

进行性眼外肌麻痹 4型 伴mtDNA缺失 常显

207

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5

进行性眼外肌麻痹 5型 伴mtDNA缺失 常显

208

Craniofacial anomalies and anterior segment dysgenesis syndrome

颅面部畸形和眼前段发育不全综合征

209

Keratoconus 1

圆锥角膜 1

210

Meesmann corneal dystrophy

Meesmann角膜营养不良

211

Meesmann corneal dystrophy

Meesmann角膜营养不良

212

Corneal dystrophy, epithelial basement membrane

角膜上皮基底膜营养不良

213

Macular corneal dystrophy

斑块状角膜营养不良

214

Corneal dystrophy, lattice type I

格子状角膜营养不良 1

215

Corneal dystrophy, lattice type IIIA

格子状角膜营养不良 3A

216

Corneal dystrophy, Avellino type

角膜营养不良 Avellino

217

Corneal dystrophy, Groenouw type I

角膜营养不良  Groenouw 1

218

Corneal dystrophy, Reis-Bucklers type

角膜营养不良 Reis-Bucklers

219

Corneal dystrophy, Thiel-Behnke type

角膜营养不良 Thiel-Behnke

220

Corneal dystrophy, posterior polymorphous, 1

角膜营养不良,1型,后部多形性

221

Corneal dystrophy, Fuchs endothelial, 1

Fuchs角膜内皮营养不良 1

222

Corneal dystrophy, Fuchs endothelial, 3

Fuchs角膜内皮营养不良 3

223

Corneal dystrophy, Fuchs endothelial, 4

Fuchs角膜内皮营养不良 4

224

Corneal dystrophy, Fuchs endothelial, 6

Fuchs角膜内皮营养不良 6

225

Corneal dystrophy, Fuchs endothelial, 8

Fuchs角膜内皮营养不良 8

226

Corneal endothelial dystrophy

角膜内皮营养不良

227

Corneal endothelial dystrophy and perceptive deafness

角膜内皮营养不良和感音神经性耳聋

228

Corneal dystrophy, gelatinous drop-like

胶滴样角膜营养不良

229

Corneal dystrophy, posterior polymorphous 2

多形性后部角膜营养不良 2

230

Corneal dystrophy, posterior polymorphous, 3

多形性后部角膜营养不良 3

231

Fleck corneal dystrophy

斑点状角膜营养不良

232

Keratitis

角膜炎

233

Optic nerve hypoplasia

视神经发育不全

234

Coloboma of optic nerve

视神经缺损

235

Coloboma, ocular

眼缺损

236

?Coloboma, ocular, autosomal recessive

?眼缺损,常染色体隐性遗传

237

Retinoblastoma, trilateral

三侧性视网膜母细胞瘤

238

Retinoblastoma 

视网膜母细胞瘤

239

Myopia, high, with cataract and vitreoretinal degeneration

高度近视 伴白内障-玻璃体视网膜变性

240

Myopia 6

近视 6

241

Myopia 22, autosomal dominant

近视 22型 常显

242

Deafness and myopia

遗传性耳聋 伴近视

243

Cataract 1, multiple types

多发型白内障 1

244

Cataract 4, multiple types

多发型白内障 4

245

Cataract 9, multiple types

多发型白内障 9

246

Cataract 11, multiple types

多发型白内障 11

247

Cataract 12, multiple types

多发型白内障 12

248

Cataract 14, multiple types

多发型白内障 14

249

Cataract 16, multiple types

多发型白内障 16

250

Cataract 18, autosomal recessive

先天性白内障 18  常隐

251

?Cataract 41

先天性白内障 41  

252

Cataract 13 with adult i phenotype

成人白内障 13 

253

Cataract 11, syndromic

综合征性白内障 11

254

?Cataract 30, pulverulent

粉状白内障 30  

255

Cataract with late-onset corneal dystrophy

白内障 伴晚发性角膜营养不良

256

Cataract, juvenile, with microcornea and glucosuria

白内障 伴小角膜和糖尿 青少年型

257

Congenital cataracts, hearing loss, and neurodegeneration

先天性白内障 听觉丧失及神经退行性疾病

258

Microphthalmia, isolated 2

孤立性小眼畸形 2

259

Microphthalmia, isolated 3

孤立性小眼畸形 3

260

Microphthalmia, isolated 4

孤立性小眼畸形 4

261

Microphthalmia, isolated 5

孤立性小眼畸形 5

262

Microphthalmia, isolated 8

孤立性小眼畸形 8

263

Microphthalmia, syndromic 3

小眼畸形综合征 3

264

Microphthalmia, syndromic 5

小眼畸形综合征 5

265

Microphthalmia, syndromic 9

小眼畸形综合征 9

266

Microphthalmia, isolated, with coloboma 7

孤立性小眼畸形 7型 伴眼组织缺损

267

Microphthalmia, isolated, with coloboma 8

孤立性小眼畸形 8型 伴眼组织缺损

268

Microphthalmia, isolated, with coloboma 10

孤立性小眼畸形 10型 伴眼组织缺损

269

Microphthalmia with limb anomalies

小眼畸形 伴肢体畸形

270

Microphthalmia with coloboma 3

小眼畸形与缺损 3

271

Microphthalmia with coloboma 6, digenic

小眼畸形与缺损 6 

272

Nystagmus 1, congenital, X-linked

先天性眼球震颤 1  X连锁

273

Nystagmus 6, congenital, X-linked

先天性眼球震颤 6  X连锁

274

Nystagmus, infantile periodic alternating, X-linked

周期性眼球震颤 X连锁 幼年期发病

275

Nanophthalmos 2

真性小眼球 2

276

Optic nerve hypoplasia and abnormalities of the central nervous system

视神经发育不全和中枢神经系统异常

277

Retinal dystrophy, early-onset, with or without pituitary dysfunction

早发型视网膜营养性萎缩症伴或不伴垂体功能紊乱

278

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome

视网膜营养性萎缩症 虹膜先天性虹膜缺损和痤疮综合征

279

Ocular albinism, type I, Nettleship-Falls type

眼白化病 I Nettleship-Falls

280

Aniridia

无虹膜 先天性

281

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

多发性神经病变-听力丧失-共济失调-色素性视网膜炎-白内障

282

Microcornea, myopic chorioretinal atrophy, and telecanthus

小角膜-近视性脉络膜视网膜萎缩-内眦距过宽

283

Ectopia lentis et pupillae

瞳孔晶状体异位

284

Ectopia lentis, familial

家族性晶状体异位

285

Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma

球形晶状体和/或巨角膜 伴晶体异位 伴或不伴继发性青光眼

286

Ectopia lentis, isolated, autosomal recessive

遗传独立晶状体异位 常染色体隐性

287

Blue cone monochromacy

蓝视锥全色盲

288

Blue cone monochromacy

蓝视锥全色盲

289

Colorblindness, protan

红色色盲

290

Colorblindness, deutan

绿色色盲

291

Iridogoniodysgenesis, type 1

虹膜发育不全 1

292

Iridogoniodysgenesis, type 2

虹膜发育不全 2

293

Ring dermoid of cornea

角膜环状皮样瘤

294

?Morning glory disc anomaly

?牵牛花视盘发育异常

295

Anterior segment mesenchymal dysgenesis

眼前段间叶组织发育不全

296

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani综合征 2型 显性遗传

297

Oguchi disease-1

Oguchi 1

298

Oguchi disease-2

Oguchi 2

299

Aland Island eye disease

奥兰岛眼病

300

Stickler sydrome, type I, nonsyndromic ocular

Stickler综合征I型 非综合征性眼病

301

Stickler syndrome, type I

Stickler综合征I 

302

Stickler syndrome, type II

Stickler综合征II 

303

Stickler syndrome, type III

Stickler综合征III 

304

Stickler syndrome, type IV

Stickler综合征IV 

305

Wagner syndrome

Wagner综合征

306

Usher syndrome, type 1B

Usher综合征1B

307

Usher syndrome, type 1C

Usher综合征1C

308

Usher syndrome, type 1D

Usher综合征1D

309

Usher syndrome, type 1D/F digenic

Usher综合征1D/F

310

Usher syndrome, type 1D/F digenic

Usher综合征1D/F

311

Usher syndrome, type 1F

Usher综合征1F

312

Usher syndrome, type 1G

Usher综合征1G

313

Usher syndrome, type 2A

Usher综合征2A

314

Usher syndrome, type 2C, GPR98/PDZD7 digenic

Usher综合征2C GPR98/PDZD7 

315

Usher syndrome, type 2C

Usher综合征2C

316

Usher syndrome, type 3A

Usher综合征3A

317

Usher syndrome, type IJ

Usher综合征IJ

318

Usher syndrome, type IIC, GPR98/PDZD7 digenic

Usher综合征IIC  

319

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

{ Usher综合征的视网膜病 IIA型 修饰型

320

Marfan syndrome

马凡综合征

321

Bardet-Biedl syndrome 1

Bardet-Biedl综合征 1

322

{Bardet-Biedl syndrome 1, modifier of}

Bardet-Biedl综合征 1型 变质性

323

Bardet-Biedl syndrome 2

Bardet-Biedl综合征 2

324

Bardet-Biedl syndrome 3

Bardet-Biedl综合征 3

325

Bardet-Biedl syndrome 4

Bardet-Biedl综合征 4

326

Bardet-Biedl syndrome 5

Bardet-Biedl综合征 5

327

Bardet-Biedl syndrome 6

Bardet-Biedl综合征 6

328

Bardet-Biedl syndrome 7

Bardet-Biedl综合征 7

329

Bardet-Biedl syndrome 8

Bardet-Biedl综合征 8

330

Bardet-Biedl syndrome 9

Bardet-Biedl综合征 9

331

Bardet-Biedl syndrome 10

Bardet-Biedl综合征 10

332

?Bardet-Biedl syndrome 11

Bardet-Biedl综合征 11

333

Bardet-Biedl syndrome 12

Bardet-Biedl综合征 12

334

Bardet-Biedl syndrome 13

Bardet-Biedl综合征 13

335

?Bardet-Biedl syndrome 14

Bardet-Biedl综合征 14

336

{Bardet-Biedl syndrome 14, modifier of}

Bardet-Biedl综合征 14型 变质性

337

?Bardet-Biedl syndrome 15

Bardet-Biedl综合征 15

338

Bardet-Biedl syndrome 16

Bardet-Biedl综合征 16

339

Bardet-Biedl syndrome 17

Bardet-Biedl综合征 17

340

?Bardet-Biedl syndrome 18

Bardet-Biedl综合征 18

341

von Hippel-Lindau syndrome

Von Hippel-Lindau综合征

342

Alstrom syndrome

Alstrom综合症

343

FG syndrome 4

FG综合征 4

344

COACH syndrome

COACH综合征

345

COACH syndrome

COACH综合征

346

COACH syndrome

COACH综合征

347

Joubert syndrome 1

Joubert综合征 1

348

Joubert syndrome 4

Joubert综合征 4

349

Joubert syndrome 7

Joubert综合征 7

350

Joubert syndrome 9

Joubert综合征 9

351

Meckel syndrome 5

Meckel综合征 5

352

Meckel syndrome 6

Meckel综合征 6

353

Jalili syndrome

Jalili综合征

354

Senior-Loken syndrome-1

Senior-Loken综合征 1

355

Senior-Loken syndrome 5

Senior-Loken综合征 5

356

Senior-Loken syndrome 4

Senior-Loken综合征 4

357

Senior-Loken syndrome 6

Senior-Loken综合征 6

358

Senior-Loken syndrome 7

Senior-Loken综合征 7

359

EDICT syndrome

EDICT综合征

360

Axenfeld-Rieger syndrome, type 1

Axenfeld-Rieger综合征 1

361

Axenfeld-Rieger syndrome, type 3

Axenfeld-Rieger综合征 3

362

Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf optic atrophy综合征

363

Lowe syndrome

Lowe综合征

364

Warburg micro syndrome 1

Warburg micro综合征 1

365

Leigh syndrome

Leigh综合征

366

Loeys-Dietz syndrome 1

Loeys-Dietz综合征 1

367

Loeys-Dietz syndrome 2

Loeys-Dietz综合征 2

368

Dent disease 2

Dent 2

369

Tay-Sachs disease

Tay-Sachs

370

Norrie Disease

Norrie

371

Ceroid lipofuscinosis, neuronal, 1

神经元蜡样脂褐色沉积病 1

372

Ceroid lipofuscinosis, neuronal, 2

神经元蜡样脂褐色沉积病 2

373

Ceroid lipofuscinosis, neuronal, 3

神经元蜡样脂褐色沉积病 3

374

Ceroid lipofuscinosis, neuronal, 4, Parry type

神经元蜡样脂褐色沉积病 4  防守型

375

Ceroid lipofuscinosis, neuronal, 5

神经元蜡样脂褐色沉积病 5

376

Ceroid lipofuscinosis, neuronal, 6

神经元蜡样脂褐色沉积病 6

377

Ceroid lipofuscinosis, neuronal, 7

神经元蜡样脂褐色沉积病 7

378

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant

神经元蜡样脂褐色沉积病 8型 北方癫痫变异

379

Ceroid lipofuscinosis, neuronal, 8

神经元蜡样脂褐色沉积病 8

380

Ceroid lipofuscinosis, neuronal, 10

神经元蜡样脂褐色沉积病 10

381

Ceroid lipofuscinosis, neuronal, Kufs type, adult onset

神经元蜡样质脂褐质沉积病 成人发病型 库夫斯型

382

Ataxia-telangiectasia

共济失调-毛细血管扩张症

383

Ataxia-telangiectasia-like disorder

毛细血管扩张 类共济失调性

384

Ataxia with isolated vitamin E deficiency

共济失调 伴选择性维生素E缺乏症

385

Spastic paraplegia 7, autosomal recessive

痉挛性截瘫 7型 常染色体隐性

386

Spastic paraplegia 55, autosomal recessive

痉挛性截瘫 55型 常染色体隐性

387

Episodic ataxia, type 2

发作性共济失调 2

388

Spinocerebellar ataxia 6

脊髓小脑共济失调 6

389

Spinocerebellar ataxia, autosomal recessive 7

脊髓小脑共济失调 7型 常染色体隐性

390

Spinocerebellar ataxia 14

脊髓小脑共济失调 14

391

Mental retardation, with or without nystagmus

精神发育迟滞伴或不伴眼球震颤

392

Mental retardation, truncal obesity, retinal dystrophy, and micropenis

智力障碍-躯干肥胖-视网膜营养不良-小阴茎

393

Deafness, autosomal recessive 31

遗传性耳聋 31型 常染色体隐性

394

Deafness, autosomal recessive 39

遗传性耳聋 39型 常染色体隐性 

395

Deafness, autosomal recessive 77

遗传性耳聋 77  常染色体隐性 

396

Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission

致命性脑病 有缺陷的线粒体过氧化物酶体裂变导致

397

Leukodystrophy, hypomyelinating, 5

髓鞘发育不良性脑白质营养不良 5

398

GM2-gangliosidosis, several forms

GM2-神经节苷脂贮积症

399

Sandhoff disease, infantile, juvenile, and adult forms

Sandhoff病 小儿 青少年和成人的形式

400

Hereditary motor and sensory neuropathy VIA

遗传性运动和感觉神经病变 VIA

401

Hydrocephalus, nonsyndromic, autosomal recessive 2

非综合征性脑积水 2型 常染色体隐性

402

Peters anomaly

Peters异常

403

Peters anomaly

Peters异常

404

Peters anomaly

Peters异常

405

Mirror movements 2

镜像运动 2

406

Epileptic encephalopathy, early infantile, 11

早期婴儿癫痫性脑病 11

407

Paragangliomas 5

副神经节瘤 5

408

Mental retardation, X-linked syndromic, Christianson type

精神发育迟滞综合征 X连锁遗传 Christianson

409

Amyo