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HEREDITARY DISEASE DETECTION遗传病检测

血液及免疫缺陷病

 

血液及免疫缺陷病检测包共收录与血液及免疫缺陷病相关535个基因,701种疾病。如:急性骨髓性白血病、淋巴增殖综合症、白血病/B细胞淋巴瘤、真性红细胞增多症等。


主要疾病如下:

1

Leukemia, acute myeloid

急性骨髓性白血病

2

Leukemia, acute myeloid

急性骨髓性白血病

3

Leukemia, acute myeloid

急性骨髓性白血病

4

Leukemia, acute myeloid

急性骨髓性白血病

5

Leukemia, acute myeloid

急性骨髓性白血病

6

Leukemia, acute myeloid

急性骨髓性白血病

7

Leukemia, acute myeloid

急性骨髓性白血病

8

Leukemia, acute myeloid

急性骨髓性白血病

9

Leukemia, acute myeloid

急性骨髓性白血病

10

Leukemia, acute myeloid

急性骨髓性白血病

11

Leukemia, acute myeloid

急性骨髓性白血病 易感基因

12

Leukemia, acute myeloid

急性骨髓性白血病 易感基因

13

Leukemia, acute myeloid

急性骨髓性白血病 易感基因

14

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

15

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

16

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

17

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

18

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

19

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

20

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

21

Leukemia, acute myeloid

急性骨髓性白血病 体细胞遗传

22

Leukemia, acute myeloid, M4/M4Eo subtype, somatic

急性骨髓性白血病 M4/M4Eo型 体细胞遗传

23

Myelofibrosis, somatic

骨髓纤维化 体细胞

24

Myelofibrosis, somatic

骨髓纤维化 体细胞

25

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

肺纤维化和/或骨髓衰竭 端粒相关 1

26

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3

肺纤维化和/或骨髓衰竭 3型,端粒相关

27

Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

肺纤维化和/或端粒相关性骨髓衰竭,4

28

Multiple myeloma, resistance to

多发性骨髓瘤 抵抗性

29

Multiple myeloma, susceptibility to

多发性骨髓瘤 易感性

30

Myelodysplastic syndrome, preleukemic

骨髓增生异常综合征 白血病前期

31

Myelodysplastic syndrome, susceptibility to

骨髓增生异常综合征 易感性

32

Myelodysplastic syndrome

骨髓增生异常综合征

33

Myelodysplastic syndrome

骨髓增生异常综合征

34

Myelokathexis, isolated

孤立性骨髓粒细胞缺乏症

35

Lymphoproliferative syndrome 1

淋巴增殖综合症-1

36

Lymphoproliferative syndrome 2

淋巴增殖综合症-2

37

Lymphoproliferative syndrome, X-linked, 1

淋巴增殖综合症-1 X连锁

38

Lymphoproliferative syndrome, X-linked, 2

淋巴增殖综合症-2 X连锁

39

Autoimmune lymphoproliferative syndrome, type IA

自身免疫性淋巴增生综合征 IA

40

Autoimmune lymphoproliferative syndrome, type IB

自身免疫性淋巴增生综合征 IB

41

Autoimmune lymphoproliferative syndrome, type II

自身免疫性淋巴增生综合征 II

42

Autoimmune lymphoproliferative syndrome, type III

自身免疫性淋巴增生综合征 III

43

Autoimmune lymphoproliferative syndrome type IV

自身免疫性淋巴增生综合征 IV

44

Autoimmune lymphoproliferative syndrome, type V

自身免疫性淋巴增生综合征 V

45

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

α/βT细胞淋巴球减少症伴γ/δ T细胞扩张 严重的巨细胞感染和自身免疫

46

Autoimmune lymphoproliferative syndrome, type IIB

自身免疫性淋巴增生综合征 IIB

47

Bare lymphocyte syndrome, type I

裸淋巴细胞综合症  I

48

Bare lymphocyte syndrome, type I

裸淋巴细胞综合症  I

49

Bare lymphocyte syndrome, type I, due to TAP2 deficiency

裸淋巴细胞综合症  I TAP2缺乏导致

50

Immunodeficiency 41 with lymphoproliferation and autoimmunity

淋巴组织增生和自身免疫免疫缺陷 41

51

Leukemia, acute lymphoblastic

急性淋巴细胞白血病

52

Leukemia,T-cell acute lymphocytic

急性淋巴细胞白血病

53

Leukemia, acute lymphoblastic, susceptibility to, 3

急性淋巴细胞白血病 3型 易感性

54

Leukemia, myeloid/lymphoid or mixed-lineage

髓系/淋巴系或混合型白血病

55

Leukemia, T-cell acute lymphoblastic

急性T淋巴细胞白血病

56

Leukemia, T-cell acute lymphoblastoid

急性T淋巴母细胞白血病

57

Leukemia/lymphoma, B-cell, 2

白血病/B细胞淋巴瘤 2

58

Lymphoma, non-Hodgkin

非霍奇金淋巴瘤

59

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

Noonan样综合症伴或不伴单核细胞性白血病

60

Neutropenia, severe congenital 1, autosomal dominant

常显严重嗜中性白血球减少症 1

61

Neutropenia, severe congenital 2, autosomal dominant

常显严重嗜中性白血球减少症 2

62

Neutropenia, severe congenital 3, autosomal recessive

常隐严重嗜中性白血球减少症 3

63

Neutropenia, severe congenital 4, autosomal recessive

常隐严重嗜中性白血球减少症 4

64

Neutropenia, severe congenital, 5, autosomal recessive

常隐严重嗜中性白血球减少症 5

65

Neutropenia, severe congenital, 6, autosomal recessive

常隐严重嗜中性白血球减少症 6

66

Neutropenia, severe congenital, X-linked

X连锁严重嗜中性白血球减少症

67

Neutrophil immunodeficiency syndrome

中性粒细胞免疫缺陷综合征

68

Platelet disorder, familial, with associated myeloid malignancy

家族性血小板异常 伴髓系恶性肿瘤

69

Erythrocytosis, familial, 1

真性红细胞增多症 1

70

Erythrocytosis, familial, 2

真性红细胞增多症 2

71

Erythrocytosis, familial, 3

真性红细胞增多症 3

72

Erythrocytosis, familial, 4

真性红细胞增多症 4

73

Erythrocytosis, somatic

红细胞增多症

74

Erythrocytosis

红细胞增多()

75

Thrombocythemia 2

血小板增多症 2

76

Thrombocythemia 3

血小板增多症 3

77

Dyskeratosis congenita, autosomal recessive 1

先天性角化不良 1型 常隐

78

{Dyskeratosis congenita, autosomal dominant 2}

先天性角化不良 2型 常显

79

Dyskeratosis congenita, autosomal recessive 2

先天性角化不良 2型 常隐

80

Dyskeratosis congenita, autosomal dominant 3

先天性角化不良 3型 常显

81

Dyskeratosis congenita, autosomal recessive 3

先天性角化不良 3型 常隐

82

Dyskeratosis congenita, autosomal dominant 4

先天性角化不良 4型 常显

83

{Dyskeratosis congenita, autosomal recessive 4}

先天性角化不良 4型 常隐

84

Dyskeratosis congenita, autosomal dominant 5

先天性角化不良 5型 常显

85

Dyskeratosis congenita, autosomal recessive 5

先天性角化不良 5型 常隐

86

?Dyskeratosis congenita, autosomal dominant 6

?先天性角化不良症 6型 常显

87

Dyskeratosis congenita, autosomal recessive 6

先天性角化不良症 6型 常隐

88

?Dyskeratosis congenita, autosomal recessive 7

?先天性角化不良症 7型 常隐

89

Dyskeratosis congenita, X-linked

X连锁先天性角化不良

90

Thalassemias, alpha-

α地中海贫血

91

Thalassemia, alpha-

α地中海贫血

92

Alpha-thalassemia/mental retardation syndrome

α地中海贫血/智力障碍综合征

93

Thalassemias, beta-

β地中海贫血

94

Thalassemia-beta, dominant inclusion-body

β-地中海贫血 包涵体

95

Delta-beta thalassemia

δβ-地中海贫血

96

Hemolytic anemia due to G6PD deficiency

G6PD缺陷导致的溶血性贫血

97

Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

磷酸葡萄糖异构酶导致的溶血性贫血

98

Anemia, hemolytic, due to UMPH1 deficiency

UMPH1缺陷导致的溶血性贫血

99

Hemolytic anemia due to adenylate kinase deficiency

腺苷酸激酶缺乏导致的溶血性贫血

100

Hemolytic anemia due to hexokinase deficiency

己糖激酶缺乏缺乏导致的溶血性贫血

101

Pyruvate kinase deficiency

丙酮酸激酶缺乏导致的血球型溶血性贫血

102

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

103

?Paroxysmal nocturnal hemoglobinuria 2

阵发性睡眠性血红蛋白尿症 2

104

Aplastic anemia

再生障碍性贫血

105

Aplastic anemia

再生障碍性贫血

106

Diamond-Blackfan anemia 1

镰状细胞性贫血 1

107

Diamond-blackfan anemia 3

镰状细胞性贫血 3

108

Diamond-Blackfan anemia 4

镰状细胞性贫血 4

109

Diamond-Blackfan anemia 5

镰状细胞性贫血 5

110

Diamond-Blackfan anemia 6

镰状细胞性贫血 6

111

Diamond-Blackfan anemia 7

镰状细胞性贫血 7

112

Diamond-Blackfan anemia 8

镰状细胞性贫血 8

113

Diamond-Blackfan anemia 9

镰状细胞性贫血 9

114

Diamond-Blackfan anemia 10

镰状细胞性贫血 10

115

?Diamond-Blackfan anemia 11

镰状细胞性贫血 11

116

?Diamond-Blackfan anemia 12

镰状细胞性贫血 12

117

Diamond-Blackfan anemia 13

镰状细胞性贫血 13

118

Dyserythropoietic anemia, congenital, type Ia

先天性纯红细胞再生障碍性贫血 Ia

119

Dyserythropoietic anemia, congenital, type II

先天性纯红细胞再生障碍性贫血 II

120

Dyserythropoietic anemia, congenital, type IV

先天性纯红细胞再生障碍性贫血 IV

121

Aplastic anemia, susceptibility to

再生障碍性贫血 易感性

122

Fanconi anemia, complementation group A

范科尼贫血 A

123

Fanconi anemia, complementation group B

范科尼贫血 B

124

Fanconi anemia, complementation group C

范科尼贫血 C

125

Fanconi anemia, complementation group D1

范科尼贫血 D1

126

Fanconi anemia, complementation group D2

范科尼贫血 D2

127

Fanconi anemia, complementation group E

范科尼贫血 E

128

Fanconi anemia, complementation group F

范科尼贫血 F

129

Fanconi anemia, complementation group G

范科尼贫血 G

130

Fanconi anemia, complementation group I

范科尼贫血 I

131

Fanconi anemia, complementation group J

范科尼贫血 J

132

Fanconi anemia, complementation group L

范科尼贫血 L

133

Fanconi anemia, complementation group N

范科尼贫血 N

134

Fanconi anemia, complementation group O

范科尼贫血 O

135

Fanconi anemia, complementation group P

范科尼贫血 P

136

Fanconi anemia, complementation group Q

范科尼贫血 Q

137

Hemochromatosis, type 1

血色病 1

138

Hemochromatosis, type 2A

血色病 2A

139

Hemochromatosis, type 2B

血色病 2B

140

Hemochromatosis, type 3

血色病 3

141

Hemochromatosis, type 4

血色病 4

142

Spherocytosis, type 1

1型球形红细胞症

143

Spherocytosis, type 2

2型球形红细胞症

144

Spherocytosis, type 3

3型球形红细胞症

145

Spherocytosis, type 4

4型球形红细胞症

146

Spherocytosis, type 5

5型遗传性球形红细胞症

147

Elliptocytosis-1

椭圆形红细胞性贫血 1

148

Elliptocytosis-2

椭圆形红细胞性贫血 2

149

Elliptocytosis-3

椭圆形红细胞性贫血 3

150

Sickle cell anemia

镰状细胞性贫血

151

Porphyria, congenital erythropoietic

先天性红细胞生成卟啉病

152

Protoporphyria, erythropoietic, X-linked

X连锁红细胞生成性原卟啉病

153

Anemia, sideroblastic, 1

铁粒幼细胞贫血 1

154

Anemia, sideroblastic, 3, pyridoxine-refractory

吡哆醇顽固性铁粒幼细胞贫血 3

155

Anemia, sideroblastic, with ataxia

贫血 铁粒幼细胞 伴共济失调

156

Mitochondrial myopathy and sideroblastic anemia 1

线粒体肌病和铁粒幼细胞贫血 1

157

Thiamine-responsive megaloblastic anemia syndrome

硫胺素反应性巨幼细胞性贫血综合征

158

Megaloblastic anemia-1, Finnish type

巨幼细胞性贫血 Finnish

159

Megaloblastic anemia-1, Norwegian type

巨幼细胞性贫血 Norwegian

160

Phosphoglycerate kinase 1 deficiency

磷酸甘油酸激酶-1缺乏症

161

Heme oxygenase-1 deficiency

血氧素加氧酶-1缺乏症

162

Iron-refractory iron deficiency anemia

铁难治性缺铁性贫血

163

Congenital pernicious anemia, due to defect of intrinsic factor

内在因子缺乏引起的先天性恶性贫血

164

Adenosine triphosphate, elevated, of erythrocytes

红细胞三磷酸腺苷升高

165

Hypochromic microcytic anemia

低色小红细胞性贫血

166

Ovalocytosis, SA type

卵形红细胞症 SA

167

Thrombocytopenia, X-linked

血小板减少症 X连锁

168

?Thrombocytopenia 2

?血小板减少症 2

169

Thrombocytopenia 2

血小板减少症 2

170

Thrombocytopenia 4

血小板减少症 4

171

Thrombocytopenia 5

血小板减少症 5

172

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

X连锁血小板减少症,伴或不伴有障碍性贫血

173

Radioulnar synostosis with amegakaryocytic thrombocytopenia 1

桡骨尺骨间骨性联接伴无巨核细胞性血小板减少 1

174

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

桡骨尺骨间骨性联接伴无巨核细胞性血小板减少 2

175

Thrombocytopenia-absent radius syndrome

血小板减少-桡骨缺失综合征

176

Thrombocytopenia, congenital amegakaryocytic

先天性无巨核细胞血小板减少症

177

Macrothrombocytopenia and progressive sensorineural deafness

巨血小板减少症和进行性感音神经性耳聋

178

Macrothrombocytopenia, autosomal dominant, TUBB1-related 

TUBB1相关的巨血小板减少症 常显

179

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

180

Thrombocytopenia with beta-thalassemia, X-linked

血小板减少症 伴β-地中海贫血 X连锁 

181

Thrombocytopenia, X-linked, intermittent

血小板减少症 X连锁 间歇性

182

Thrombotic thrombocytopenic purpura, familial

家族性血栓性血小板减少性紫癜

183

Thrombocytopenic purpura, autoimmune

自身免疫性血小板减少性紫癜

184

Thrombocytopenia, neonatal alloimmune

同种免疫性新生儿血小板减少性紫癜

185

Purpura, posttransfusion

输血后紫癜

186

Bleeding disorder, platelet-type, 1

血小板型出血性疾病 1

187

Bleeding disorder, platelet-type, 8

血小板型出血性疾病 8

188

Bleeding disorder, platelet-type, 11

血小板型出血性疾病 11

189

Bleeding disorder, platelet-type, 13

血小板型出血性疾病 13

190

Bleeding disorder, platelet-type, 15

血小板型出血性疾病 15

191

Bleeding disorder, platelet-type, 16

血小板型出血性疾病 16

192

Bleeding disorder, platelet-type, 16

血小板型出血性疾病 16

193

Bleeding disorder, platelet-type, 17

血小板型出血性疾病 17

194

Bleeding disorder, platelet-type, 18

血小板型出血性疾病 18

195

Bleeding disorder, platelet-type, 19

血小板型出血性疾病 19

196

Bernard-Soulier syndrome, type A1 (recessive)

伯纳德巨大血小板综合征 A1型 常隐

197

Bernard-Soulier syndrome, type A2 (dominant)

伯纳德巨大血小板综合征 A2型 常显

198

Bernard-Soulier syndrome, type B

伯纳德巨大血小板综合征 B

199

Bernard-Soulier syndrome, type C

伯纳德巨大血小板综合征 C

200

Quebec platelet disorder

Quebec血小板病

201

Glycoprotein Ia deficiency

糖蛋白Ia缺陷症

202

Platelet glycoprotein IV deficiency

血小板糖蛋白IV缺陷症

203

Thromboxane synthase deficiency

血栓素合成酶缺乏症

204

von Willebrand disease, platelet-type

血管性血友病 血小板型

205

Glanzmann thrombasthenia

血小板无力症

206

Glanzmann thrombasthenia

血小板无力症

207

Giant platelet disorder, isolated

巨大血小板疾病

208

May-Hegglin anomaly

-格二氏畸形

209

Gray platelet syndrome

灰色血小板综合征

210

Hemophilia A

血友病A

211

Hemophilia B

血友病B

212

von Willebrand disease, type 1

血管性血友病 1

213

von Willebrand disease, types 2A, 2B, 2M, and 2N

血管性血友病 2A, 2B, 2M2N

214

von Willibrand disease, type 3

血管性血友病 3

215

Hypoprothrombinemia

遗传性低凝血酶原血症

216

Factor VII deficiency

F7因子缺陷

217

Factor XI deficiency, autosomal dominant

因子XI缺陷 常显

218

Factor XI deficiency, autosomal recessive

因子XI缺陷 常隐

219

Alpha-2-plasmin inhibitor deficiency

α-2纤维蛋白溶酶抑制剂缺陷症

220

Vitamin K-dependent clotting factors, combined deficiency of, 1

维生素K依赖凝血因子缺乏症 1

221

Vitamin K-dependent clotting factors, combined deficiency of, 2

维生素K依赖凝血因子缺乏症 2

222

Telangiectasia, hereditary hemorrhagic, type 1

遗传性出血性毛细血管扩张症 1

223

Telangiectasia, hereditary hemorrhagic, type 2

遗传性出血性毛细血管扩张症 2

224

Telangiectasia, hereditary hemorrhagic, type 5

遗传性出血性毛细血管扩张症 5

225

Ataxia-telangiectasia

毛细血管扩张共济失调

226

Ataxia-telangiectasia-like disorder

类毛细血管扩张性共济失调

227

Hemorrhagic diathesis due to \antithrombin Pittsburgh

出血性特质 匹兹堡抗凝血酶导致

228

Homocystinuria due to MTHFR deficiency

由于MTHFR缺乏导致的高胱氨酸尿症

229

Thrombophilia due to activated protein C resistance

由于蛋白C抵抗导致的易栓症

230

Thrombophilia due to antithrombin III deficiency

由于抗凝血酶Ⅲ缺乏导致的易栓症

231

Thrombophilia due to protein C deficiency, autosomal dominant

由于蛋白C缺乏导致的易栓症,常隐

232

Thrombophilia due to protein C deficiency, autosomal recessive

由于蛋白C缺乏导致的易栓症,常显

233

Thrombophilia due to protein S deficiency, autosomal recessive

由于蛋白S缺乏导致的易栓症,常隐

234

Thrombophilia due to protein S deficiency, autosomal dominant

由于蛋白S缺乏导致的易栓症,常显

235

Thrombophilia due to elevated HRG

由于HRG过多导致的易栓症

236

Thrombophilia due to HRG deficiency

由于HRG缺乏导致的易栓症

237

Thrombophilia due to thrombin defect

由于凝血酶缺陷导致的易栓症

238

Thrombophilia due to thrombomodulin defect

由于血栓调节蛋白缺陷导致的易栓症

239

Thrombophilia due to heparin cofactor II deficiency

由于肝素辅因子II缺陷导致的易栓症

240

Thrombophilia, X-linked, due to factor IX defect

由于辅因子IX缺陷导致的易栓症

241

Kenny-Caffey syndrome, type 1

Kenny-Caffey综合症 1

242

Kenny-Caffey syndrome, type 2

Kenny-Caffey综合症 2

243

Schimke immunoosseous dysplasia

Schimke免疫-骨发育不良

244

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

X连锁多内分泌腺病肠病伴免疫失调综合征

245

Leukocyte adhesion deficiency, type I

白细胞粘连缺乏症 1

246

Leukocyte adhesion deficiency, type II

白细胞粘连缺乏症 2

247

Leukocyte adhesion deficiency, type III

白细胞粘连缺乏症 3

248

Galactosemia

半乳糖血症

249

Propionicacidemia

丙酸血症

250

Propionicacidemia

丙酸血症

251

Burkitt lymphoma

伯基特淋巴瘤

252

Osteopetrosis, autosomal dominant 1

常染色体显性骨硬化病 1

253

Osteopetrosis, autosomal dominant 2

常染色体显性骨硬化病 2

254

Osteopetrosis, autosomal recessive 1

常染色体隐性骨硬化病 1

255

Osteopetrosis, autosomal recessive 2

常染色体隐性骨硬化病 2

256

Osteopetrosis, autosomal recessive 3

常染色体隐性骨硬化病 3

257

Osteopetrosis, autosomal recessive 4

常染色体隐性骨硬化病 4

258

Osteopetrosis, autosomal recessive 5

常染色体隐性骨硬化病 5

259

Osteopetrosis, autosomal recessive 6

常染色体隐性骨硬化病 6

260

Osteopetrosis, autosomal recessive 7

常染色体隐性骨硬化病 7

261

Osteopetrosis, autosomal recessive 8

常染色体隐性骨硬化病 8

262

Megaloblastic anemia due to dihydrofolate reductase deficiency

二氢叶酸还原酶缺乏导致的巨幼细胞性贫血

263

Fabry disease

法布里病

264

Senior-Loken syndrome 4

Senior-Loken综合征(肾视网膜营养不良)4

265

Methemoglobinemia, type I

高铁血红蛋白血症 I

266

Methemoglobinemia, type II

高铁血红蛋白血症 II

267

Methemoglobinemia, type IV

高铁血红蛋白血症 IV

268

Sitosterolemia

谷甾醇血症

269

Sitosterolemia

谷甾醇血症

270

Transcobalamin II deficiency

转运钴胺II缺乏

271

Protoporphyria, erythropoietic, autosomal recessive

常染色体隐性红细胞生成性原卟啉病

272

Porphyria, acute hepatic

急性肝性卟啉病

273

Abruptio placentae, susceptibility to

胎盘早期脱离 易感性

274

Adenosine deaminase deficiency, partial

腺苷脱氨酶缺陷症 局部

275

Adrenal cortical carcinoma

肾上腺皮质细胞癌

276

Afibrinogenemia, congenital

先天性无纤维蛋白原血症

277

Afibrinogenemia, congenital

先天性无纤维蛋白原血症

278

Afibrinogenemia, congenital

先天性无纤维蛋白原血症

279

Agammaglobulinemia 1

无丙种球蛋白血症 1

280

Agammaglobulinemia, X-linked 1

无丙种球蛋白血症 1 X连锁

281

Agammaglobulinemia 2

无丙种球蛋白血症 2

282

Agammaglobulinemia 3

无丙种球蛋白血症 3

283

Agammaglobulinemia 4

无丙种球蛋白血症 4

284

Agammaglobulinemia 6

无丙种球蛋白血症 6

285

Agammaglobulinemia 8, autosomal dominant

无丙种球蛋白血症 8型,常染色体显性遗传

286

Agammaglobulinemia and isolated hormone deficiency

无丙种球蛋白血症和孤立的生长激素缺乏症

287

Agammaglobulinemia 7, autosomal recessive

丙种球蛋白血症 7型 常染色体隐性

288

Aicardi-Goutieres syndrome 6

Aicardi-Goutieres综合症 6

289

Amyloidosis, familial visceral

家族性内脏淀粉样病变

290

?Amyloidosis, familial visceral

家族性内脏淀粉样变性病

291

Androgen insensitivity

雄激素不敏感症

292

Mismatch repair cancer syndrome

错配修复癌综合征

293

Endometrial cancer, familial

家族性子宫内膜癌

294

Androgen insensitivity, partial, with or without breast cancer

雄激素不敏感症 部分伴或者不伴乳腺癌

295

Anemia, neonatal hemolytic, fatal and near-fatal

贫血 新生儿溶血 致命和近致命

296

Angioedema, hereditary, types I and II

遗传性血管水肿 I/II

297

Angioedema, hereditary, type III

遗传性血管水肿 III

298

Aortic valve disease 1

主动脉瓣疾病 1

299

Aspergillosis, susceptibility to

曲霉病 易感性

300

Asplenia, isolated congenital

无脾伴先天性孤独症

301

Atopy

特应性

302

Autoimmune disease, multisystem, infantile-onset

婴儿多发性自身免疫性疾病

303

Autoimmune disease, multisystem, with facial dysmorphism

多系统自身免疫性疾病 伴面部畸形

304

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

305

Autoinflammation, antibody deficiency, and immune dysregulation syndrome

自发炎症 缺乏抗体和免疫失调综合征

306

Basal cell carcinoma 7

基底细胞癌 7

307

B-cell expansion with NFKB and T-cell anergy

B细胞增值 伴NFKBT细胞无能

308

Blood group--Lutheran inhibitor

Lutheran 血型抑制

309

Bohring-Opitz syndrome

Bohring-Opitz综合症

310

Breast cancer

乳腺癌

311

C1q deficiency

C1q缺乏症

312

C1q deficiency

C1q缺乏症

313

C1q deficiency

C1q缺乏症

314

C1r/C1s deficiency, combined

C1r/C1s联合缺乏症

315

C1s deficiency 

C1s缺乏症

316

C2 deficiency

C2缺乏症

317

C3 deficiency

C3缺乏症

318

C4a deficiency

C4a缺陷症

319

C4B deficiency 

C4B缺陷症

320

C5 deficiency

C5缺陷症

321

C6 deficiency

C6缺陷症

322

C7 deficiency

C7缺陷症

323

C8 deficiency, type I

C8缺乏症 I

324

C8 deficiency, type II

C8缺乏症 II

325

C9 deficiency

C9缺乏症

326

Candidiasis, familial, 2, autosomal recessive

家族性念珠菌病 2型 常染色体隐性

327

Candidiasis, familial, 4, autosomal recessive

家族性念珠菌病 4型 常染色体隐性

328

Candidiasis, familial, 5, autosomal recessive

家族性念珠菌病 5型 常染色体隐性

329

Candidiasis, familial, 6, autosomal dominant

家族性念珠菌病 6型 常染色体显性

330

Candidiasis, familial, 8

家族性念珠菌病 8

331

Candidiasis, familial, 9

家族性念珠菌病 9

332

CD8 deficiency, familial

家族性CD8缺乏

333

Cerebellar ataxia

小脑共济失调

334

Cherubism

巨颌症

335

Chilblain lupus

冻疮样狼疮

336

Chilblain lupus 2

冻疮样狼疮 2

337

Choroid plexus papilloma

脉络丛乳头状瘤

338

Chronic granulomatous disease due to deficiency of NCF-1

慢性肉芽肿性疾病 NFC1缺陷导致

339

Chronic granulomatous disease due to deficiency of NCF-2

慢性肉芽肿性疾病 NFC2缺陷导致

340

Chronic granulomatous disease, autosomal, due to deficiency of CYBA

慢性肉芽肿性疾病 CYBA缺陷导致

341

Chronic granulomatous disease, X-linked

慢性肉芽肿性疾病 X连锁

342

Coronary heart disease, susceptibility to, 7 

冠心病 7型 易感性

343

Colorectal cancer

结直肠癌

344

Colorectal cancer, hereditary nonpolyposis, type 4

遗传性非息肉病性结直肠癌 4

345

Colorectal cancer, hereditary nonpolyposis, type 5

遗传性非息肉病性结直肠癌 5

346

Combined C6/C7 deficiency

C6/C7结合不足

347

Combined cellular and humoral immune defects with granulomas

结合细胞和体液免疫缺陷 伴肉芽肿

348

Combined cellular and humoral immune defects with granulomas

结合细胞和体液免疫缺陷 伴肉芽肿

349

Combined factor V and VIII deficiency

联合因子 VIII缺陷

350

Combined immunodeficiency, X-linked, moderate

适度联合免疫缺陷 X连锁

351

Complement component 4, partial deficiency of

补体成分 4型 部分缺乏

352

Complement factor B deficiency

补体B因子缺乏

353

Complement factor D deficiency

补体因子D缺乏症

354

Complement factor H deficiency

补体因子H缺乏症

355

Complement factor I deficiency

补体因子I缺乏症

356

Cone-rod dystrophy

视锥/视锥杆细胞营养不良

357

Congenital myopathy with excess of muscle spindles

先天性肌病 伴肌梭过剩

358

Conotruncal anomaly face syndrome

先天性异常面容综合征

359

Frontotemporal dementia and/or amyotrophic lateral sclerosis 4

额颞叶痴呆和/或肌萎缩性侧索硬化症 4

360

Gastrointestinal defects and immunodeficiency syndrome

胃肠道缺陷和免疫缺陷综合征

361

Gaucher disease, type I

戈谢病 I

362

Gaucher disease, type II

戈谢病 II

363

Gaucher disease, type III

戈谢病 III

364

Gaucher disease, type IIIC

戈谢病 IIIC

365

Gaucher disease, perinatal lethal

围产期致死性戈谢病

366

Glioma susceptibility 1

神经胶质瘤 1型 易感性

367

Glioma susceptibility 2

神经胶质瘤 2型 易感性

368

Glomerulosclerosis, focal segmental, 4, susceptibility to

局灶节段性肾小球硬化症 4型 易感性

369

Glycogen storage disease Ib

糖原贮积症 Ib

370

Glycogen storage disease Ic

糖原贮积症 Ic

371

Gracile bone dysplasia

纤瘦骨发育不良

372

Graft-versus-host disease, protection against

移植物抗宿主病 防御性

373

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

慢性肉芽肿性疾病 3型 常染色体隐性 细胞色素b阳性

374

Growth hormone insensitivity with immunodeficiency

生长激素不敏感 伴免疫缺陷

375

H. pylori infection, susceptibility to

幽门螺旋杆菌感染 易感性

376

Heinz body anemia

亨氏身体贫血

377

Heinz body anemias, alpha-

α-亨氏身体贫血

378

Heinz body anemias, beta-

β-亨氏身体贫血

379

Hemoglobin H disease, nondeletional

H-血红蛋白疾病 非缺失

380

Hemoglobin H disease, nondeletional

H-血红蛋白疾病 非缺失

381

Hemolytic uremic syndrome, atypical, susceptibility to

非典型Hemolytic uremic综合征 易感性

382

Hemolytic uremic syndrome, atypical, susceptibility to

非典型Hemolytic uremic综合征 易感性

383

Hemolytic uremic syndrome, atypical, susceptibility to, 1

非典型Hemolytic uremic综合征 1型 易感性

384

Hemolytic uremic syndrome, atypical, susceptibility to, 2

非典型Hemolytic uremic综合征 2型 易感性

385

Hemolytic uremic syndrome, atypical, susceptibility to, 3

非典型Hemolytic uremic综合征 3型 易感性

386

Hemolytic uremic syndrome, atypical, susceptibility to, 4

非典型Hemolytic uremic综合征 4型 易感性

387

Hemolytic uremic syndrome, atypical, susceptibility to, 5

非典型Hemolytic uremic综合征 5型 易感性

388

Hemolytic uremic syndrome, atypical, susceptibility to, 6

非典型Hemolytic uremic综合征 6型 易感性

389

Hemophagocytic lymphohistiocytosis, familial, 2

家族性噬血细胞综合征 2

390

Hemophagocytic lymphohistiocytosis, familial, 3

家族性噬血细胞综合征 3

391

Hemophagocytic lymphohistiocytosis, familial, 4

家族性噬血细胞综合征 4

392

Hemophagocytic lymphohistiocytosis, familial, 5

家族性噬血细胞综合征 5

393

Hemosiderosis, systemic, due to aceruloplasminemia

系统性含铁血黄素沉着症 铜蓝蛋白失调导致

394

Hepatic venoocclusive disease with immunodeficiency

肝静脉闭塞性疾病 伴免疫缺陷

395

Hepatitic C virus, susceptibility to

丙型肝炎病毒 易感性

396

Hepatitis B virus infection, susceptibility to

乙型肝炎病毒感染 易感性

397

Hepatitis B virus, susceptibility to

乙型肝炎病毒 易感性

398

Hepatocellular carcinoma

肝细胞癌

399

Hereditary persistence of fetal hemoglobin

遗传性持续性胎儿血红蛋白增多症

400

Herpes simplex encephalitic, susceptibility to, 6

单纯疱疹性脑炎 6型 易感性

401

Herpes simplex encephalitis, susceptibility to, 1

单纯疱疹性脑炎 1型 易感性

402

Herpes simplex encephalitis, susceptibility to, 2

单纯疱疹性脑炎 2型 易感性

403

Herpes simplex encephalitis, susceptibility to, 3

单纯疱疹性脑炎 3型 易感性

404

HIV1 infection, resistance to

HIV1感染 抗性

405

HIV-1, susceptibility to

HIV-1  易感性

406

HPRT-related gout

HPRT基因相关的痛风

407

Hyperfibrinolysis, familial, due to increased release of PLAT

家族性纤维蛋白溶解过度  PLAT上升导致

408

Hyper-IgD syndrome

IgD综合征

409

Hyper-IgE recurrent infection syndrome

IgE复发性感染综合征

410

Hyper-IgE recurrent infection syndrome, autosomal recessive

IgE复发性感染综合征 常染色体隐性

411

Hyperostosis, endosteal

骨内膜骨质增生

412

Hypodysfibrinogenemia

纤维蛋白原血症

413

Hypodysfibrinogenemia, congenital

先天性纤维蛋白原血症

414

Hypofibrinogenemia, congenital

先天性低纤维蛋白原血症

415

Hypofibrinogenemia, congenital

先天性低纤维蛋白原血症

416

Hypoparathyroidism-retardation-dysmorphism syndrome

甲状旁腺功能减退症障碍畸形综合征

417

Immunodeficiency 7, TCR-alpha/beta deficient

免疫缺陷 7 TCRα/β缺乏

418

Immunodeficiency 8

免疫缺陷 8

419

Immunodeficiency 9

免疫缺陷 9

420

Immunodeficiency 10

免疫缺陷 10

421

Immunodeficiency 11

免疫缺陷 11

422

Immunodeficiency 12

免疫缺陷 12

423

Immunodeficiency 13

免疫缺陷 13

424

Immunodeficiency 14

免疫缺陷 14

425

Immunodeficiency 15

免疫缺陷 15

426

Immunodeficiency 16

免疫缺陷 16

427

Immunodeficiency 17, CD3 gamma deficient

免疫缺陷 17 CD3γ缺陷

428

Immunodeficiency 18

免疫缺陷 18

429

Immunodeficiency 18, SCID variant

免疫缺陷 18 SCID变异型

430

Immunodeficiency 19

免疫缺陷 19

431

Immunodeficiency 20

免疫缺陷 20

432

Immunodeficiency 21

免疫缺陷 21

433

Immunodeficiency 22

免疫缺陷 22

434

Immunodeficiency 23

免疫缺陷 23

435

Immunodeficiency 24

免疫缺陷 24

436

Immunodeficiency 25

免疫缺陷 25

437

Immunodeficiency 26, with or without neurologic abnormalities

免疫缺陷 26型 伴或无神经系统异常

438

Immunodeficiency 27A, mycobacteriosis, AR

免疫缺陷型分枝杆菌病 27A型 常染色体隐性

439

Immunodeficiency 27B, mycobacteriosis, AD

免疫缺陷型分枝杆菌病 27B  常染色体显性

440

Immunodeficiency 28, mycobacteriosis

免疫缺陷型分枝杆菌病 28

441

Immunodeficiency 29, mycobacteriosis

免疫缺陷型分枝杆菌病 29 

442

Immunodeficiency 30

免疫缺陷 30

443

Immunodeficiency 31A, mycobacteriosis, autosomal dominant

免疫缺陷型分枝杆菌病 31A型 常染色体显性

444

Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive

免疫缺陷型分枝杆菌病 31B型 常染色体显性

445

Immunodeficiency 31C, autosomal dominant

免疫缺陷型分枝杆菌病 31C型 常染色体显性

446

Immunodeficiency 32A, mycobacteriosis, autosomal dominant

免疫缺陷 32A型 分枝杆菌病,常染色体显性遗传

447

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

免疫缺陷 32B型 单核细胞和树突状细胞缺乏 常染色体隐性遗传

448

Immunodeficiency 33

免疫缺陷 33

449

Immunodeficiency 34, mycobacteriosis, X-linked

免疫缺陷性分枝杆菌病 34 X连锁

450

Immunodeficiency 35

免疫缺陷 35

451

Immunodeficiency 36

免疫缺陷 36

452

?Immunodeficiency 37

?免疫缺陷 37

453

Immunodeficiency 38

免疫缺陷 38

454

?Immunodeficiency 39

免疫缺陷 39

455

Immunodeficiency 40

免疫缺陷 40

456

Immunodeficiency 42

免疫缺陷 42

457

Immunodeficiency 43

免疫缺陷 43

458

Immunodeficiency 44

免疫缺陷 44

459

Immunodeficiency due to defect in MAPBP-interacting protein

免疫缺陷 MAPBP-interacting蛋白缺陷导致

460

Immunodeficiency due to ficolin 3 deficiency

免疫缺陷 纤维凝胶蛋白-3缺乏导致

461

Immunodeficiency due to purine nucleoside phosphorylase deficiency

免疫缺陷 嘌呤核苷磷酸化酶缺陷导致

462

Immunodeficiency with hyper-IgM, type 2

免疫缺陷 2型 伴高IgM

463

Immunodeficiency with hyper-IgM, type 3

免疫缺陷 3型 伴高IgM

464

Immunodeficiency with hyper IgM, type 5

免疫缺陷 5型 伴高IgM

465

Immunodeficiency, common variable, 1

普通变异性免疫缺陷 1

466

Immunodeficiency, common variable, 2

普通变异性免疫缺陷 2

467

Immunodeficiency, common variable, 3

普通变异性免疫缺陷 3

468

Immunodeficiency, common variable, 4

普通变异性免疫缺陷 4

469

Immunodeficiency, common variable, 5

普通变异性免疫缺陷 5

470

Immunodeficiency, common variable, 6

普通变异性免疫缺陷 6

471

Immunodeficiency, common variable, 7

普通变异性免疫缺陷 7

472

Immunodeficiency, common variable, 8, with autoimmunity

普通变异性免疫缺陷 8型 伴自身免疫

473

Immunodeficiency, common variable, 10

普通变异型免疫缺陷 10

474

?Immunodeficiency, common variable, 11

?普通变异型免疫缺陷 11

475

Immunodeficiency, common variable, 12

普通变异型免疫缺陷 12

476

Immunodeficiency, common variable, 13

普通变异性免疫缺陷 13

477

Immunodeficiency, isolated

免疫缺陷 独立型

478

Immunodeficiency, primary, autosomal recessive, IL21R-related

IL21R相关原发性免疫缺陷 常染色体隐性

479

Immunodeficiency, X-linked, with hyper-IgM

免疫缺陷 伴高IgM X连锁 

480

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

481

Immunoglobulin A deficiency 2

免疫球蛋白A缺乏症 2

482

Incontinentia pigmenti

色素失调症

483

Inflammatory bowel disease 1

炎症性肠病 1

484

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

485

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

486

Insulin resistance, susceptibility to

胰岛素抵抗 易感性

487

Interleukin 1 receptor antagonist deficiency

白细胞介素1受体拮抗剂缺乏症

488

Invasive pneumococcal disease, recurrent isolated, 2

复发性孤立性侵袭性肺炎球菌病 2

489

IRAK4 deficiency

IRAK4缺乏症

490

Leukemia, acute T-cell

急性T细胞白血病

491

Leukemia, Philadelphia chromosome-positive, resistant to imatinib

白血病 费城染色体阳性 伊马替尼耐药 

492

Leukoencephalopathy, diffuse hereditary, with spheroids

遗传性弥漫性脑白质病 伴球样体

493

Lipoma

脂肪瘤

494

Malaria, resistance to

疟疾 抵抗性

495

Kappa light chain deficiency

κ轻链缺乏症

496

MASP2 deficiency

MASP2缺乏症

497

Mast cell disease

肥大细胞病

498

Melanoma and neural system tumor syndrome

黑色素瘤与神经系统肿瘤综合征

499

Melanoma, cutaneous malignant, 2

皮肤恶性黑色素瘤 2

500

Melanoma, cutaneous malignant, 9

皮肤恶性黑色素瘤 9

501

Meningioma

脑膜瘤

502

Mental retardation, autosomal dominant 29

精神发育迟滞 常染色体显性遗传 29

503

Metachondromatosis

混合性软骨瘤病

504

Methemoglobinemias, alpha-

α-高铁血红蛋白血症

505

Methemoglobinemias, beta-

β-高铁血红蛋白血症

506

Mevalonic aciduria

甲羟戊酸血症

507

MHC class II deficiency, complementation group B

MHC II级缺陷 互补B

508

Microvascular complications of diabetes 4

糖尿病微血管并发症 4

509

Microvascular complications of diabetes 7

糖尿病微血管并发症 7

510

Mismatch repair cancer syndrome

错配修复肿瘤综合征

511

Multiple congenital anomalies-hypotonia-seizures syndrome 3

多发性先天性肌张力发作异常综合征 3

512

Multiple sclerosis, susceptibility to, 5

多发性硬化症 5型 易感性

513

Mycobacterium tuberculosis, susceptibility to

结核分枝杆菌病 易感性

514

Myelogenous leukemia, acute

急性髓性白血病

515

Myocardial infarction, susceptibility to

心肌梗塞 易感性