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HEREDITARY DISEASE DETECTION遗传病检测

矮小检测包

 

矮小检测包共收录与矮小相关231个基因,275种疾病。如:成骨不全、软骨发育低下、维生素D依赖性佝偻病、生长激素缺乏症等。


主要疾病如下:

1

Osteogenesis imperfecta, type I

成骨不全 I

2

Osteogenesis imperfecta, type II

成骨不全 II

3

Osteogenesis imperfecta, type II

成骨不全 II

4

Osteogenesis imperfecta, type III

成骨不全 III

5

Osteogenesis imperfecta, type III

成骨不全 III

6

Osteogenesis imperfecta, type IV

成骨不全 IV

7

Osteogenesis imperfecta, type IV

成骨不全 IV

8

Osteogenesis imperfecta, type V

成骨不全 V

9

Osteogenesis imperfecta, type VI

成骨不全 VI

10

Osteogenesis imperfecta, type VII

成骨不全 VII

11

Osteogenesis imperfecta, type VIII

成骨不全 VIII

12

Osteogenesis imperfecta, type IX

成骨不全 IX

13

Osteogenesis imperfecta, type X

成骨不全 X

14

Osteogenesis imperfecta, type XI

成骨不全 XI

15

Osteogenesis imperfecta, type XII

成骨不全 XII

16

Osteogenesis imperfecta, type XIII

成骨不全 XIII

17

Osteogenesis imperfecta, type XIV

成骨不全 XIV

18

Osteogenesis imperfecta, type XV

成骨不全 XV

19

Achondroplasia

软骨发育不全

20

Pseudoachondroplasia

假性软骨发育不全

21

Metaphyseal chondrodysplasia, Schmid type

干骺端软骨发育不良

22

Hypochondroplasia

软骨发育低下

23

Achondrogenesis, type IA

软骨生成不全 IA

24

Achondrogenesis, type IB

软骨生成不全 IB

25

Achondrogenesis, type II  or hypochondrogenesis

软骨生成不全 II

26

Ellis-van Creveld syndrome

软骨外胚层发育不良

27

Ellis-van Creveld syndrome

软骨外胚层发育不良

28

Leri-Weill dyschondrosteosis

Leri-Weill 软骨生成障碍

29

Exostoses, multiple, type 1

脂肪软骨营养不良 1

30

Exostoses, multiple, type 2

脂肪软骨营养不良 2

31

Spondylocostal dysostosis 1

脊椎肋骨发育不全 1

32

Spondylocostal dysostosis 2

脊椎肋骨发育不全 2

33

Spondylocostal dysostosis 3

脊椎肋骨发育不全 3

34

Spondylocostal dysostosis 4, autosomal recessive

脊椎肋骨发育不全 4型,常隐

35

Spondylocostal dysostosis 5

脊椎肋骨发育不全 5

36

Thanatophoric dysplasia, type I

致死性发育不全I

37

Thanatophoric dysplasia, type II

致死性发育不全I

38

Pycnodysostosis

致密性骨发育障碍

39

Atelosteogenesis, type I

骨发育不全症 I

40

Atelosteogenesis, type II

骨发育不全症 II

41

Atelosteogenesis, type III

骨发育不全症 III

42

Rhizomelic chondrodysplasia punctata, type 1

四肢近端软骨斑点 1

43

Rhizomelic chondrodysplasia punctata, type 2

四肢近端软骨斑点 2

44

Rhizomelic chondrodysplasia punctata, type 3

四肢近端软骨斑点 3

45

Chondro dysplasia with joint dislocations, GRAPP type

软骨发育不良与关节脱位

46

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

软骨发育不良,扁平椎,短指畸形,脑积水,小眼球

47

Chondrodysplasia punctata

点状软骨发育不良

48

Vitamin D-dependent rickets, type I

维生素D依赖性佝偻病 I

49

Rickets, vitamin D-resistant, type IIA

维生素D依赖性佝偻病 IIA

50

Rickets due to defect in vitamin D 25-hydroxylation

25羟基化维生素D依赖性佝偻病

51

Hypophosphatemic rickets, AR

低磷酸盐血症性佝偻病,常隐

52

Hypophosphatemic rickets, autosomal recessive, 2

低磷酸盐血症性佝偻病,常隐2

53

Hypophosphatemic rickets, autosomal dominant

低磷酸盐血症性佝偻病,常显

54

Hypophosphatemic rickets, X-linked dominant

低磷酸盐血症性佝偻病,X连锁显性

55

Hypophosphatemic rickets

低磷酸盐血症性佝偻病

56

Hypophosphatemic rickets with hypercalciuria

低磷酸盐血症性佝偻病伴高钙尿症

57

Short-rib thoracic dysplasia 2 with or without polydactyly

窒息性胸廓发育不良 2型 (伴或不伴多指畸形)

58

Short-rib thoracic dysplasia 3 with or without polydactyly

窒息性胸廓发育不良 3型 (伴或不伴多指畸形)

59

Short-rib thoracic dysplasia 4 with or without polydactyly

窒息性胸廓发育不良 4型 (伴或不伴多指畸形)

60

Short-rib thoracic dysplasia 5 with or without polydactyly

窒息性胸廓发育不良 5型 (伴或不伴多指畸形)

61

Short-rib thoracic dysplasia 6 with or without polydactyly

窒息性胸廓发育不良 6型 (伴或不伴多指畸形)

62

Short-rib thoracic dysplasia 7 with or without polydactyly

窒息性胸廓发育不良 7型 (伴或不伴多指畸形)

63

Short-rib thoracic dysplasia 8 with or without polydactyly

窒息性胸廓发育不良 8型 (伴或不伴多指畸形)

64

Short-rib thoracic dysplasia 9 with or without polydactyly

窒息性胸廓发育不良 9型 (伴或不伴多指畸形)

65

Short-rib thoracic dysplasia 10 with or without polydactyly

窒息性胸廓发育不良 10型 (伴或不伴多指畸形)

66

Short-rib thoracic dysplasia 11 with or without polydactyly

窒息性胸廓发育不良 11型 (伴或不伴多指畸形)

67

Growth hormone deficiency, isolated, type IA

生长激素缺乏症 IA

68

Growth hormone deficiency, isolated, type IB

生长激素缺乏症 IB

69

Growth hormone deficiency, isolated, type II

生长激素缺乏症 II

70

Epiphyseal dysplasia, multiple, 1

多发性骨骺发育不良 1

71

Epiphyseal dysplasia, multiple, 2

多发性骨骺发育不良 2

72

Epiphyseal dysplasia, multiple, 3

多发性骨骺发育不良 3

73

Epiphyseal dysplasia, multiple, 4

多发性骨骺发育不良 4

74

Epiphyseal dysplasia, multiple, 5

多发性骨骺发育不良 5

75

Epiphyseal dysplasia, multiple, 6

多发性骨骺发育不良 6

76

Langer mesomelic dysplasia

Langer肢中部发育不良

77

Cranioectodermal dysplasia 1

颅骨外胚层发育不良 1

78

Cranioectodermal dysplasia 2

颅骨外胚层发育不良 2

79

Cranioectodermal dysplasia 3

颅骨外胚层发育不良 3

80

Cranioectodermal dysplasia 4

颅骨外胚层发育不良 4

81

Cleidocranial dysplasia

锁骨头颅骨发育不良

82

Fibrochondrogenesis 1

纤维软骨增生 1

83

Fibrochondrogenesis 2

纤维软骨增生 2

84

Acrodysostosis 1, with or without hormone resistance

肢成骨不全 1型 伴或不伴激素抵抗

85

Acrodysostosis 2, with or without hormone resistance

肢成骨不全 2型 伴或不伴激素抵抗

86

Microcephaly, short stature, and impaired glucose metabolism

矮小,伴小头畸形及糖代谢异常

87

Multiple joint dislocations, short stature, and congenital heart defects

矮小,多关节脱位,伴心血管损伤

88

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

矮小,指甲发育不良,面部畸形,稀毛

89

Retinal dystrophy, juvenile cataracts, and short stature syndrome

视网膜营养不良,幼年白内障,矮小综合征

90

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities

矮小,外耳道锁闭,下颌骨发育不良,骨骼畸形

91

Osteochondritis dissecans, short stature, and early-onset osteoarthritis

矮小,剥脱性骨软骨炎,早发性骨关节炎

92

Short stature, optic nerve atrophy, and Pelger-Huet anomaly

矮小,视神经萎缩,佩-休二氏异常

93

Spondyloepiphyseal dysplasia with congenital joint dislocations

先天性脊柱骨骺发育不良,关节脱位

94

Spondyloepiphyseal dysplasia tarda

脊椎骨骺迟缓性发育不良

95

Spondyloperipheral dysplasia

脊椎干骺端发育不良

96

Metaphyseal chondrodysplasia, Murk Jansen type

干骺端软骨发育不良或发育异常或结构不良, Murk Jansen

97

Microcephalic osteodysplastic primordial dwarfism, type I

MOPD I

98

Microcephalic osteodysplastic primordial dwarfism, type II

MOPD II

99

Brachyolmia type 3

短躯干症 3

100

Brachyolmia type 4

短躯干症 4

101

Dent disease

Dent

102

Dent disease 2

Dent 2

103

Menkes disease

Menkes

104

Septooptic dysplasia

视隔发育不良

105

De la Chapelle dysplasia

De la Chapelle发育不良

106

Smith-McCort dysplasia 1

Smith-McCort 发育不良 1

107

Smith-McCort dysplasia 2

Smith-McCort 发育不良 2

108

Desbuquois dysplasia 1

Desbuquois 发育不良1

109

Desbuquois dysplasia 2

Desbuquois 发育不良2

110

Geleophysic dysplasia 1

Geleophysic 发育不良 1

111

Geleophysic dysplasia 2

Geleophysic 发育不良 2

112

Acromicric dysplasia

Acromicric 发育不良

113

Acrocapitofemoral dysplasia

Acrocapitofemoral 发育不良

114

Acromesomelic dysplasia, Maroteaux type

Acromesomelic 发育不良, Maroteaux

115

Craniofrontonasal dysplasia

Craniofrontonasal 发育不良

116

Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal 发育不良

117

Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal 发育不良

118

Schimke immunoosseous dysplasia

Schimke immunoosseous 发育不良

119

Kniest dysplasia

Kniest 发育不良

120

Gracile bone dysplasia

Gracile bone 发育不良

121

Dyggve-Melchior-Clausen disease

Dyggve-Melchior-Clausen

122

Weyers acrodental dysostosis

Weyers acrodental 发育不良

123

Weyers  acrofacial  dysostosis

Weyers  acrofacial  发育不良

124

Anauxetic dysplasia

Anauxetic 缺乏

125

Mosaic variegated aneuploidy syndrome 1

斑花叶非整倍体综合征 1

126

Mosaic variegated aneuploidy syndrome 2

斑花叶非整倍体综合征 2

127

3-M syndrome 1

3-M 综合征 1

128

3-M syndrome 2

3-M 综合征 2

129

3-M syndrome 3

3-M 综合征 3

130

Arthrogryposis, distal, type 2B

远端关节弯曲综合征 2B

131

Arthrogryposis, distal, type 2B

远端关节弯曲综合征 2B

132

Arthrogryposis, distal, type 2B

远端关节弯曲综合征 2B

133

Arthrogryposis, distal, type 2B

远端关节弯曲综合征 2B

134

Arthrogryposis, distal, type 3

远端关节弯曲综合征 3

135

Arthrogryposis, distal, type 5

远端关节弯曲综合征 5

136

Arthrogryposis, distal, type 5D

远端关节弯曲综合征 5D

137

Arthrogryposis, distal, type 7 (Trismus-pseudocamptodactyly syndrome)

远端关节弯曲综合征 7

138

Meier-Gorlin syndrome 1

Meier-Gorlin 综合征 1

139

Meier-Gorlin syndrome 2

Meier-Gorlin 综合征 2

140

Meier-Gorlin syndrome 3

Meier-Gorlin 综合征 3

141

Meier-Gorlin syndrome 4

Meier-Gorlin 综合征 4

142

Meier-Gorlin syndrome 5

Meier-Gorlin 综合征 5

143

Baraitser-Winter syndrome 1

Baraitser-Winter 综合征 1

144

Baraitser-Winter syndrome 2

Baraitser-Winter 综合征 2

145

Seckel syndrome 1

塞克尔综合征 1

146

Seckel syndrome 2

塞克尔综合征 2

147

Seckel syndrome 4

塞克尔综合征 4

148

Seckel syndrome 5

塞克尔综合征 5

149

Seckel syndrome 7

塞克尔综合征 7

150

Seckel syndrome 8

塞克尔综合征 8

151

Noonan syndrome 1

Noonan 综合征 1

152

Noonan syndrome 3

Noonan 综合征 3

153

Noonan syndrome 4

Noonan 综合征 4

154

Noonan syndrome 5

Noonan 综合征 5

155

Noonan syndrome 6

Noonan 综合征 6

156

Noonan syndrome 7

Noonan 综合征 7

157

Noonan syndrome 8

Noonan 综合征 8

158

Noonan-like syndrome with loose anagen hair

Noonan 样综合征伴生长期头发松动

159

Neurofibromatosis-Noonan syndrome

神经纤维瘤-Noonan综合征

160

Weill-Marchesani syndrome 1

Weill-Marchesani 综合征 1

161

Weill-Marchesani syndrome 2

Weill-Marchesani 综合征 2

162

Weill-Marchesani syndrome 3

Weill-Marchesani 综合征 3

163

Weill-Marchesani-like syndrome

Weill-Marchesani 样综合征

164

Warburg micro syndrome 1

Warburg micro 综合征 1

165

Warburg micro syndrome 2

Warburg micro 综合征 2

166

Warburg micro syndrome 3

Warburg micro 综合征 3

167

Warburg micro syndrome 4

Warburg micro 综合征 4

168

Ehlers-Danlos syndrome with short stature and limb anomalies

Ehlers Danlos身材矮小、肢体畸形综合征

169

Ehlers-Danlos syndrome, type VIIC

Ehlers-Danlos 综合征, VII

170

Spondylocheirodysplasia, Ehlers-Danlos syndrome-like

Ehlers-Danlos 样综合征

171

FILS syndrome

FILS 综合征

172

SHORT syndrome

SHORT 综合征

173

Wiedemann-Steiner syndrome

Wiedemann-Steiner 综合征

174

Coffin-Lowry syndrome

Coffin-Lowry 综合征

175

Renpenning syndrome

Renpenning 综合征

176

Floating-Harbor syndrome

Floating-Harbor 综合征

177

Spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis 综合征

178

Stuve-Wiedemann syndrome//Schwartz-Jampel type 2 syndrome

Stuve-Wiedemann 综合征

179

Martsolf syndrome

Martsolf 综合征

180

Larsen syndrome

Larsen 综合征

181

Myhre syndrome

Myhre 综合征

182

Verheij syndrome

Verheij 综合征

183

Robinow syndrome, autosomal recessive

Robinow 综合征 常隐

184

Robinow syndrome, autosomal dominant 1

Robinow 综合征 1型 常显

185

Trichorhinophalangeal syndrome I 

Trichorhinophalangeal 综合征 I

186

Trichorhinophalangeal syndrome III 

Trichorhinophalangeal 综合征  III

187

Pallister-Hall syndrome

Pallister-Hall 综合征

188

Microcephaly-capillary malformation syndrome

Microcephaly-capillary malformation 综合征

189

DiGeorge syndrome

DiGeorge 综合征

190

Robinow syndrome

Robinow 综合征

191

Marinesco-Sjogren syndrome

Marinesco-Sjogren 综合征

192

C syndrome

C 综合征

193

Raine syndrome

Raine 综合征

194

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz 综合征

195

Wieacker-Wolf syndrome

Wieacker-Wolf 综合征

196

Cardiofaciocutaneous syndrome

Cardiofaciocutaneous 综合征

197

LEOPARD syndrome 1

LEOPARD 综合征 1

198

LEOPARD syndrome 3

LEOPARD 综合征 3

199

Opitz-Kaveggia syndrome

Opitz-Kaveggia 综合征

200

Cornelia de Lange syndrome 1

Cornelia de Lange 综合征 1

201

Cornelia de Lange syndrome 5

Cornelia de Lange 综合征 5

202

Carpenter syndrome

Carpenter 综合征

203

Costello syndrome

Costello 综合征

204

Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann 综合征

205

Mental retardation, X-linked syndromic 16

精神发育迟滞,X-连锁综合征16

206

Renpenning syndrome

Renpenning综合征

207

Baller-Gerold syndrome 

Baller-Gerold 综合征 

208

Primrose syndrome

Primrose 综合征

209

Bohring-Opitz syndrome

Bohring-Opitz 综合征

210

Rubinstein-Taybi syndrome

Rubinstein-Taybi 综合征

211

Nail-patella syndrome

Nail-patella 综合征

212

MASA syndrome

MASA 综合征

213

CRASH syndrome

CRASH综合征

214

Lesch-Nyhan syndrome

Lesch-Nyhan 综合征

215

Alstrom syndrome

Alstrom 综合征

216

Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial  综合征

217

Nestor-Guillermo progeria syndrome

Nestor-Guillermo progeria 综合征

218

Glass syndrome

Glass 综合征

219

Cerebral creatine deficiency syndrome 1

Cerebral creatine deficiency 综合征1

220

Fuhrmann syndrome

Fuhrmann 综合征

221

Hajdu-Cheney syndrome

Hajdu-Cheney 综合征

222

Aarskog-Scott syndrome

Aarskog-Scott 综合征

223

Cousin syndrome

Cousin 综合征

224

Cohen syndrome

Cohen 综合征

225

Otopalatodigital syndrome

Otopalatodigital 综合征

226

Nicolaides-Baraitser syndrome

Nicolaides-Baraitser 综合征

227

Wilson-Turner syndrome

Wilson-Turner 综合征

228

Marshall syndrome

Marshall 综合征

229

Alazami syndrome

Alazami 综合征

230

Schwartz-Jampel syndrome, type 1

Schwartz-Jampel 综合征1

231

Orofaciodigital syndrome IV

口面指综合征 IV

232

Mucopolysaccharidosis Ih

黏多糖贮积症 Ih

233

Mucopolysaccharidosis Ih/s

黏多糖贮积症 Ih/s

234

Mucopolysaccharidosis Is

黏多糖贮积症 Is

235

Mucopolysaccharidosis II

黏多糖贮积症 II

236

Mucopolysaccharidisis IIIA

黏多糖贮积症 IIIA

237

Mucopolysaccharidosis IIIB

黏多糖贮积症 IIIB

238

Mucopolysaccharidosis IIIC

黏多糖贮积症 IIIC

239

Mucopolysaccharidosis IIID

黏多糖贮积症 IIID

240

Mucopolysaccharidosis IVA

黏多糖贮积症 IVA

241

Mucopolysaccharidosis IVB(Morquio

黏多糖贮积症 IVB型(莫奎)

242

Mucopolysaccharidosis VI

黏多糖贮积症 VI

243

Mucopolysaccharidosis VII

黏多糖贮积症 VII

244

Mucopolysaccharidosis IX

黏多糖贮积症 IX

245

Glycogen storage disease Ia

糖原累积症 Ia

246

Glycogen storage disease Ib

糖原累积症 Ib

247

Glycogen storage disease Ic

糖原累积症 Ic

248

Glycogen storage disease IIIa

糖原累积症 IIIa

249

Glycogen storage disease IIIb

糖原累积症 IIIb

250

Glycogen storage disease XII

糖原累积症 XII

251

Congenital disorder of glycosylation, type IIa

先天性糖基化障碍 IIa

252

Congenital disorder of glycosylation, type IIb

先天性糖基化障碍 IIb

253

Congenital disorder of glycosylation, type IIc

先天性糖基化障碍 IIc

254

Mucolipidosis II alpha/beta

粘膜脂质沉积症 II alpha/beta

255

Mucolipidosis III alpha/beta

粘膜脂质沉积症 III alpha/beta

256

Mucolipidosis III gamma

粘膜脂质沉积症 III gamma

257

Mucolipidosis IV

粘膜脂质沉积症 IV

258

GM1-gangliosidosis, type I

GM1-神经节苷脂贮积病I

259

GM1-gangliosidosis, type II

GM1-神经节苷脂贮积病II

260

GM1-gangliosidosis, type III

GM1-神经节苷脂贮积病III

261

Pseudohypoparathyroidism Ia

假性甲状旁腺功能减退症 Ia

262

Pseudohypoparathyroidism Ic

假性甲状旁腺功能减退症 Ic

263

Pituitary hormone deficiency, combined, 1

垂体激素缺乏 1

264

Pituitary hormone deficiency, combined, 2

垂体激素缺乏 2

265

Pituitary hormone deficiency, combined, 3

垂体激素缺乏 3

266

Pituitary hormone deficiency, combined, 4

垂体激素缺乏 4

267

Pituitary hormone deficiency, combined, 5

垂体激素缺乏 5

268

Pituitary hormone deficiency, combined, 6

垂体激素缺乏 6

269

Growth hormone deficiency with pituitary anomalies

生长激素缺乏与垂体异常

270

Fucosidosis

岩藻糖苷贮积症

271

Growth hormone deficiency, isolated partial

生长激素缺乏症,孤立的部分

272

Hypercholesterolemia, familial, modifier of

家族性高胆固醇血症,改性剂

273

Glycerol kinase deficiency

甘油激酶缺乏

274

Phosphorylase kinase deficiency of liver and muscle

肝脏和肌肉中磷酸化酶激酶缺乏

275

Agammaglobulinemia and isolated hormone deficiency

丙种球蛋白血症和孤立的生长激素缺乏症

276

Aspartylglucosaminuria

天冬氨酰葡糖胺尿症

277

Growth retardation with deafness and mental retardation due to IGF1 deficiency

IGF1缺乏造成的发育迟缓,儿童及智力障碍

278

Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 

胼胝体发育不良 伴智力障碍、眼部缺损和小颌畸形

279

Lenz-Majewski hyperostotic dwarfism

Lenz-Majewski 骨肥厚型侏儒症

280

Brachydactyly, type E2

短指畸形,E2

281

Acrofacial dysostosis 1, Nager type

面骨发育不全 1

282

Mandibulofacial dysostosis, Guion-Almeida type

下腭面骨发育不全,Guion-Almeida type

283

Focal dermal hypoplasia

灶性皮肤发育不全

284

Linear skin defects with multiple congenital anomalies

多发性先天性畸形线性皮肤缺损

 




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