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HEREDITARY DISEASE DETECTION遗传病检测

遗传性皮肤病


遗传性皮肤病检测包共收录与遗传性皮肤病相关303个基因,345种疾病。如:表皮松解性PPK、条纹掌跖角化症、眼齿趾发育不良、眼皮肤酪氨酸血症等。


主要疾病如下:

1

Epidermolysis bullosa simplex with migratory circinate erythema

单纯性大疱性表皮松解症伴迁移性环形红斑

2

Epidermolysis bullosa simplexWeber-Cokayne type

单纯性大疱性表皮松解症 Weber-Cokayne

3

Epidermolysis bullosa simplexWeber-Cokayne type

单纯性大疱性表皮松解症 Weber-Cokayne

4

Epidermolysis bullosa of hands and feet

单纯性大疱性表皮松解症 手、足型

5

?Epidermolysis bullosa simplex with nail dystrophy

?单纯性大疱性表皮松解症伴指甲营养不良

6

Epidermolysis bullosa simplex, Ogna type

单纯性大疱性表皮松解症 Ogna

7

Epidermolysis bullosa simplex with mottled pigmentation(EBS-MP)

单纯性大疱性表皮松解症伴斑状色素沉着

8

Epidermolysis bullosa simplex with pyloric atresia

单纯性大疱性表皮松解症伴幽门闭锁

9

Epidermolysis bullosa simplex, Dowling-Meara type

单纯性大疱性表皮松解症 Dowling-Meara

10

Epidermolysis bullosa simplex, Dowling-Meara type

单纯性大疱性表皮松解症 Dowling-Meara

11

Epidermolysis bullosa simplex, recessive 1

单纯性大疱性表皮松解症 常染色体隐性1

12

Epidermolysis bullosa simplex, recessive 1

单纯性大疱性表皮松解症 常染色体隐性1

13

Epidermolysis bullosa simplex, recessive 2

 单纯性大疱性表皮松解症 常染色体隐性2

14

Epidermolysis bullosa simplex, Koebner type

单纯性大疱性表皮松解症 泛发性

15

Epidermolysis bullosa simplex, Koebner type

单纯性大疱性表皮松解症 泛发性

16

Muscular dystrophy with epidermolysis bullosa simplex

单纯性大疱性表皮松解症伴肌营养不良

17

Epidermolysis bullosa, nonspecific, autosomal recessive

大疱性表皮松解症 非特异性常染色体隐性

18

Epidermolysis bullosa, lethal acantholytic

大疱性表皮松解症 致命性棘层松解性

19

Epidermolysis bullosa, junctional, localisata variant

大疱性表皮松解症 局限变异型

20

Epidermolysis bullosa,generalized atrophic benign

大疱性表皮松解症 良性泛发性萎缩性

21

Epidermolysis bullosa dystrophica, AD

大疱性表皮松解症 营养不良型 常染色体显性遗传

22

Epidermolysis bullosa dystrophica, AR

大疱性表皮松解症 营养不良型 常染色体隐性遗传

23

Epidermolysis bullosa pruriginosa

大疱性表皮松解症 痒疹型

24

Nephropathy with pretibial epidermolysis bullosa and deafness

大疱性表皮松解症伴肾病 耳聋 胫前

25

Pretibial/autosomal dominant/autosomal Recessive epidermolysis bullosa

大疱性表皮松解症 胫前性/常显/常隐 营养不良型

26

Transient bullous dermolysis of the newborn

大疱性表皮松解症 新生儿暂时性

27

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

大疱性表皮松解症伴间质性肺炎 肾病综合征

28

Epidermolysis bullosa, junctional, non-Herlitz type

大疱性表皮松解症 non-Herlitz

29

Epidermolysis bullosa, junctional, non-Herlitz type

大疱性表皮松解症 non-Herlitz

30

Epidermolysis bullosa, junctional, non-Herlitz type

大疱性表皮松解症 non-Herlitz

31

Epidermolysis bullosa, junctional,Herlitz type

大疱性表皮松解症 Herlitz

32

Epidermolysis bullosa, junctional,Herlitz type

大疱性表皮松解症 Herlitz

33

Epidermolysis bullosa, junctional,Herlitz type

大疱性表皮松解症 Herlitz

34

Epidermolysis bullosa, junctional, non-Herlitz type

大疱性表皮松解症 非Herlitz

35

Epidermolysis bullosa, junctional, with pyloric stenosis

大疱性表皮松解症伴幽门狭窄 交界型

36

Epidermolysis bullosa, junctional, with pyloric atresia

大疱性表皮松解症伴幽门闭锁 交界型

37

Palmoplantar keratoderma,epidermolytic

表皮松解性PPK

38

Palmoplantar keratoderma,epidermolytic

表皮松解性PPK

39

Epidermolytic hyperkeratosis

表皮松解性角化过度症

40

Epidermolytic hyperkeratosis

表皮松解性角化过度症

41

Palmoplantar keratoderma,nonepidermolytic

非表皮松解性PPK

42

?Palmoplantar keratoderma, nonepidermolytic, focal 2

?非表皮分解性掌跖角化症 2型 局部病灶型

43

Palmoplantar keratoderma, nonepidermolytic, focal or diffuse

非表皮分解性掌跖角化症 局部病灶型或弥漫型

44

Palmoplantar keratoderma, nonepidermolytic, focal

非表皮分解性灶性掌跖角化症

45

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE

先天性红皮病伴掌跖角化症 稀毛症和高IgE

46

Erythrokeratodermia variabilis et progressiva

红斑皮肤角化病 进行性可变性

47

Erythrokeratodermia variabilis et progressiva

红斑皮肤角化病 进行性可变性

48

Erythrokeratodermia variabilis with erythema gyr -atum repens

红斑皮肤角化病伴匍行型红斑 可变性

49

Erythrokeratodermia with ataxia (Giroux-Barbeau syndrome)

红斑角皮症伴共济失调

50

Erythrokeratodermia variabilis

可变性红斑角化症

51

Keratoderma-hypotrichosis-leukonychia totalis syndrome(KHLS)

皮肤角化伴少毛 白反甲

52

Ectodermal dysplasia/skin fragility syndrome

外胚层发育不良/皮肤脆性综合征

53

Hereditary benign intraepithelial dyskeratosis  and ectodermal dysplasia

外胚层发育不良和遗传性良性上皮内角化不良

54

Tricho-odonto-onycho-dermal Dysplasia

毛发--指甲-皮肤发育不良

55

Epidermodysplasia verruciformis

疣状皮肤发育不良

56

Epidermodysplasia verruciformis

疣状皮肤发育不良

57

Focal dermal hypoplasia

局灶性真皮发育不全

58

Ichthyosis,cyclic,with epidermolytic hy- perkeratosis

鱼鳞病伴表皮松解型角化过度        

59

Ichthyosis with confetti

鱼鳞病伴confetti皮损

60

Mental retardation, enteropathy,deaf- ness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) 

鱼鳞病伴肠下垂 外周神经病变 智力障碍 耳聋皮肤角化(MEDINK综合征)

61

Ichthyosis, cyclic, with epidermolytic hyperkeratosis

环状鱼鳞病伴表皮松解性角化过度症

62

Cardio-facio-cutaneous syndrome

心面皮综合症

63

Cardio-facio-cutaneous syndrome

心面皮综合症

64

Cardio-facio-cutaneous syndrome

心面皮综合症

65

Cardio-facio-cutaneous syndrome

心面皮综合症

66

Dowling-Degos disease

屈侧网状色素性皮病

67

Dowling-Degos disease

屈侧网状色素性皮病

68

Dowling-Degos disease

屈侧网状色素性皮病

69

Dermatopathia pigmentosa reticularis

网状色素性皮病

70

Epidermal nevus

表皮痣

71

Epidermal nevus

表皮痣

72

Epidermal nevus

表皮痣

73

Albinism, oculocutaneous, type IA

眼皮肤白化病1A

74

Albinism, oculocutaneous, type IB

眼皮肤白化病1B

75

Albinism, oculocutaneous, type II 

眼皮肤白化病2

76

Albinism, oculocutaneous, type II 

眼皮肤白化病2

77

Albinism, oculocutaneous, type

眼皮肤白化病3

78

Albinism, oculocutaneous, type

眼皮肤白化病4

79

Albinism, oculocutaneous, type VII

眼皮肤白化病7

80

Xeroderma pigmentosum, group A

着色性干皮病 Group A

81

Xeroderma pigmentosum, group B

着色性干皮病 Group B

82

Xeroderma pigmentosum, group C

着色性干皮病 Group C

83

Xeroderma pigmentosum, group D

着色性干皮病 Group D

84

Xeroderma pigmentosum, group E

着色性干皮病 Group E

85

Xeroderma pigmentosum, group F

着色性干皮病 Group F

86

Xeroderma pigmentosum, group G

着色性干皮病 Group G

87

Xeroderma pigmentosum, variant type

着色性干皮病 变异型

88

Amyloidosis,primary localized cutaneous

原发性皮肤淀粉样变

89

Trichoepithelioma, multiple familial

家族性多发性毛发上皮瘤

90

{Spitz nevus or nevus spilus, somatic}

{斯皮茨痣或斑痣 体细胞}

91

Neurocutaneous melanosis, somatic

神经皮肤黑变病 体细胞

92

{UV-induced skin damage}

{紫外线导致皮肤损伤}

93

Poikil Oderma With Neutropenia

皮肤异色和中性粒细胞减少症

94

Poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis

皮肤异色症伴肌腱挛缩 肌病 肺纤维化

95

Ehlers-Danlos syndrome, type I

埃勒斯-当洛二氏综合征(皮肤弹性过度)1 

96

Ehlers-Danlos syndrome, type I

埃勒斯-当洛二氏综合征(皮肤弹性过度)1

97

Ehlers-Danlos syndrome, type II

埃勒斯-当洛二氏综合征(皮肤弹性过度)2

98

Ehlers-Danlos syndrome, type IV

埃勒斯-当洛二氏综合征(皮肤弹性过度)4

99

Ehlers-Danlos syndrome, type VI

埃勒斯-当洛二氏综合征(皮肤弹性过度)6

100

Ehlers-Danlos syndrome, type VIIA

埃勒斯-当洛二氏综合征(皮肤弹性过度)7A

101

Ehlers-Danlos syndrome, type VIIB

埃勒斯-当洛二氏综合征(皮肤弹性过度)7B

102

Ehlers-Danlos syndrome, type VIIC

埃勒斯-当洛二氏综合征(皮肤弹性过度)7C

103

Sebaceous nevus/schimmelpenning syndrome

皮脂腺痣/舒密尔综合征

104

Sebaceous nevus/schimmelpenning syndrome

皮脂腺痣/舒密尔综合征

105

Sebaceous nevus/schimmelpenning syndrome

皮脂腺痣/舒密尔综合征

106

Peeling skin syndrometype 1

脱皮综合征1

107

Peeling skin syndrometype 2

脱皮综合征2

108

Restrictive dermorpathy

限制性皮病

109

Restrictive dermorpathy

限制性皮病

110

Chronic Mucocutaneous Candidiasis-AD

易感慢性皮肤粘膜念珠菌病-常显

111

Chronic Mucocutaneous Candidiasis-AR

易感慢性皮肤粘膜念珠菌病-常隐

112

Chronic Mucocutaneous Candidiasis-AR

易感慢性皮肤粘膜念珠菌病-常隐

113

Aplasia cutis congenita

?非综合征性先天性头皮缺损

114

{Dermatitis, atopic, susceptibility to, 2}

{异位性皮炎 易感性 2}

115

Acrodermatitis enteropathica

肠病性肢端皮炎

116

Epithelial recurrent erosion dystrophy

上皮复发性糜烂营养不良

117

Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis

扩张型心肌病伴羊毛状发 角皮病和牙发育不全

118

Macrocephaly, alopecia, cutis laxa, and scoliosis

大头畸形、脱发、皮肤松弛症和脊椎侧弯

119

Oculocutaneous tyrosinemia

眼皮肤酪氨酸血症

120

Ichthyosis vulgaris

鱼鳞病 寻常型

121

Exfoliative ichthyosis

鱼鳞病 剥脱性

122

X-linked ichthyosis(Steroid sulfatase deficiency)

鱼鳞病 X连锁隐性

123

Ichthyosis bullosa of Siemens

鱼鳞病 Siemens大疱性

124

Ichthyosis histrix, Curth-Macklin type

鱼鳞病 Curth-Macklin

125

Hystrix-like ichthyosis with deafness

鱼鳞病伴耳聋 豪猪状

126

Cerebral dysgenesis,neuropathy,ichthy- osis, and palmoplantar keratoderma  syndrome

鱼鳞病伴脑发育障碍 神经病变 掌跖角化(CEDNIK综合征) 

127

Ichthyosis with leukocyte vacuoles,alopecia, and sclerosing cholangitis

鱼鳞病伴脱发、硬化性胆管炎、白细胞液泡化

128

Ichthyosis prematurity syndrome

鱼鳞病-性早熟综合征

129

Ichthyosis, spastic quadriplegia, and mental retardation

鱼鳞病伴痉挛型四肢麻痹及智力障碍

130

Keratosis linearis with ichthyosis con- genita and sclerosing keratoderma

线状角化病伴先天性鱼鳞病(KLICK综合征)

131

Ichthyosis,congenital,autosomal recessive 1

先天性鱼鳞病 常染色体隐性1

132

Ichthyosis,congenital,autosomal recessive 2

先天性鱼鳞病 常染色体隐性2

133

Ichthyosis,congenital,autosomal recessive 3

先天性鱼鳞病 常染色体隐性3

134

Ichthyosis,congenital,autosomal recessive 4A

先天性鱼鳞病 常染色体隐性4A型 (层板状鱼鳞病)

135

Ichthyosis,congenital,autosomal recessive 4B(harlequin)

先天性鱼鳞病 常染色体隐性4B型(丑胎鱼鳞病)

136

Ichthyosis,congenital,autosomal recessive 5

先天性鱼鳞病 常染色体隐性5

137

Ichthyosis,congenital,autosomal recessive 6

先天性鱼鳞病 常染色体隐性6

138

Ichthyosis,congenital,autosomal recessive 8(Late-onset autosomal recessive ichthyosis)

先天性鱼鳞病 常染色体隐性8

139

Ichthyosis,congenital,autosomal recessive 9

先天性鱼鳞病 常染色体隐性9

140

Ichthyosis,congenital,autosomal recessive 10

先天性鱼鳞病 常染色体隐性10

141

Ichthyosis,congenital,autosomal recessive 11(Ichthyosis-hypotrichosis syndrome)

先天性鱼鳞病(少毛) 常染色体隐性11

142

Dyskeratosis congenita,autosomal dominant 1

先天性角化不良 常染色体显性1

143

Dyskeratosis congenita,autosomal recessive 1

先天性角化不良 常染色体隐性1

144

Dyskeratosis congenita,autosomal dominant 2

先天性角化不良 常染色体显性2

145

Dyskeratosis congenita,autosomal recessive 2

先天性角化不良 常染色体隐性2

146

Dyskeratosis congenita,autosomal dominant 3

 先天性角化不良 常染色体显性3

147

Dyskeratosis congenita,autosomal recessive 3

先天性角化不良 常染色体隐性3

148

Dyskeratosis congenita,autosomal recessive 4

先天性角化不良 常染色体隐性4

149

Dyskeratosis congenita,autosomal dominant 4

先天性角化不良 常染色体显性4

150

Dyskeratosis congenita,autosomal recessive 5

先天性角化不良 常染色体隐性5

151

Dyskeratosis congenita, X-linked

X连锁先天性角化不良

152

Keratosis palmoplantar striata I

条纹掌跖角化症 I

153

Keratosis palmoplantar striata II

条纹掌跖角化症 II

154

Keratosis palmoplantaris striata III

条状掌跖角化病 III

155

Keratoderma,palmoplantar,punctuate IA

点状掌跖角化病 Ia

156

Palmoplantar keratoderma with congenital alopecia

掌跖角化症伴先天性脱发

157

Nagashima-Type Palmoplantar Keratoderma

掌跖角化症 长岛型

158

Palmoplantar keratoderma with woolly hair

掌跖角化病伴羊毛状发

159

Tylosis esophageal cancer

掌跖角化症伴食管癌

160

Keratosis palmoplantaris papulosa

掌跖角化病 丘疹性

161

Keratoderma, palmoplantar, with deafness

掌跖角化病伴耳聋性

162

Acrokeratosis verruciformis

疣状肢端角化症

163

Keratosis linearis with ichthyosis congenital and sclerosing keratoderma

线状角化病伴先天性鱼鳞病

164

Pachyonychia congenital,type I

先天性趾甲肥厚 I

165

Pachyonychia congenital,type III

先天性趾甲肥厚III

166

Pachyonychia congenital,type II

先天性趾甲肥厚 II

167

Pachyonychia congenital,type IV

先天性趾甲肥厚IV

168

Keratosis follicularis spinulosa decalvans,X- linked

X连锁脱发性棘状毛囊角化病

169

Ectodermal dysplasia,hypohidrotic,X-linked

外胚层发育不良1 X连锁少汗型

170

Ectodermal dysplasia 2, Clouston type

外胚层发育不良 2 Clouston

171

Ectodermal dysplasia,Witkop type

外胚层发育不良3

172

Ectodermal dysplasia,hair/nail type

外胚层发育不良4

173

Ectodermal dysplasia, hair/nail type

外胚层发育不良9

174

Ectodermal dysplasia, hypohidrotic/hair/nail type (autosomal dominant)

外胚层发育不良10A

175

Ectodermal dysplasia, hypohidrotic/hair/tooth type (autosomal recessive)

外胚层发育不良10B

176

Ectodermal dysplasia, hypohidrotic/hair/tooth type (autosomal dominant)

外胚层发育不良11A

177

Ectodermal dysplasia, hypohidrotic/hair/tooth type (autosomal recessive)

外胚层发育不良11B

178

Ectodermal dysplasia/short stature syndrome

外胚层发育不良/身材矮小综合征

179

Ectodermal dysplasia with T-cell immuno-deficiency (autosomal dominant)

外胚层发育不良伴T细胞免疫缺陷

180

X-linked ectodermal dysplasia with immunodeficiency

外胚层发育不良伴免疫缺陷X连锁

181

Ectodermal dysplasia with syndactyly, cleft lip/palate 

外胚层发育不良伴并指/趾 唇/腭裂

182

Rapp-Hodgkin ectodermal dysplasia

 Rapp-Hodgkin外胚叶发育不良

183

?Ectodermal dysplasia 7, hair/nail type

?毛发/指甲型外胚层发育不良 7

184

Hypotrichosis

少毛症

185

Hypotrichosis

少毛症

186

Hypotrichosis

少毛症

187

Hypotrichosis

少毛症

188

Hypotrichosis

少毛症

189

Hypotrichosis

少毛症

190

Hypotrichosis

少毛症

191

Hypotrichosis

少毛症

192

?Hypotrichosis 3

?稀毛症 3

193

Hypotrichosis 7

稀毛症 7

194

Hypotrichosis 8

稀毛症 8

195

?Hypotrichosis 13

?稀毛症 13

196

Woolly hair

羊毛状发

197

Woolly hair

羊毛状发

198

Woolly hair

羊毛状发

199

Woolly hair

羊毛状发

200

Woolly hair

羊毛状发

201

Trichothiodystrophy with ichthyosis

毛发低硫营养不良

202

Trichothiodystrophy with ichthyosis

毛发低硫营养不良

203

Trichothiodystrophy with ichthyosis

毛发低硫营养不良

204

Trichothiodystrophy with ichthyosis

毛发低硫营养不良

205

Trichothiodystrophy with ichthyosis

毛发低硫营养不良

206

Monilethrix

念珠状毛发

207

Monilethrix

念珠状毛发

208

Monilethrix

念珠状毛发

209

[Hair morphology 1, hair thickness]

[头发形态1 头发厚度]

210

Atrichia with papular lesions

秃发伴丘疹性损害

211

Alopecia universalis

普秃

212

Infantile myofibromatosis

婴儿肌纤维瘤病

213

Infantile myofibromatosis

婴儿肌纤维瘤病

214

Rhizomelic chondrodysplasia punctata, type 1

肢根斑点状软骨发育异常 1

215

Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia punctata ; chondrodystrophia calcificans punctata)

肢根斑点状软骨发育异常 II

216

Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia punctata ; chondrodystrophia calcificans punctata)

肢根斑点状软骨发育异常 3

217

Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia punctata ; chondrodystrophia calcificans punctata)

点状软骨发育不良 X连锁隐性遗传

218

Generalized peeling skin syndrome

泛发性皮肤剥脱综合征

219

Acral peeling skin syndrome

肢端皮肤剥脱综合征

220

Stiff skin syndrome

僵硬皮肤综合征

221

Skin fragility-woolly hair syndrome

脆性皮肤-羊毛状发综合征

222

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome

毛囊鱼鳞病-秃发-畏光综合征

223

Autoinflammation and ntibody deficiency and immune dysregulation syndrome

自身免疫性 抗体缺陷 免疫失调综合征(复发性大疱性皮损 关节、眼、消化道炎性病变 免疫功能)

224

Laryngoonychocutaneous syndrome

喉指甲皮肤综合征

225

CHILD syndrome

CHILD综合征(偏侧发育不良伴鱼鳞病样红皮病 肢体缺陷)

226

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

缺指畸形、外胚层发育不良和唇腭裂综合征 3

227

Tietz albinism-deafness syndrome

Tietz白化病-耳聋综合征

228

Megalencephaly-capillary malformation-polymicrogyria 

巨脑症-毛细血管畸形-多小脑回畸形综合征 体细胞

229

Chediak-Higashi syndrome

先天性白细胞颗粒异常综合征

230

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征

231

Basal cell nevus syndrome

基底细胞痣综合征

232

Basal cell nevus syndrome

基底细胞痣综合征

233

Basal cell nevus syndrome

基底细胞痣综合征

234

Stormorken syndrome

Stormorken综合征(鱼鳞病伴轻度出血倾向 管状聚集性肌病 贫血)

235

Weill-Marchesani-like syndrome

Weill-Marchesani-like综合征(鱼鳞病伴指过短 关节僵直 球状晶状体)

236

Waardenburg syndrome/albinism, digenic

Waardenburg综合征/白化病

237

Weill-Marchesani syndrome 2, dominant

Weill-Marchesani综合征2 显性

238

Adams-Oliver syndrome

Adams-Oliver综合征

239

Adams-Oliver syndrome

Adams-Oliver综合征

240

Adams-Oliver syndrome

Adams-Oliver综合征

241

Adams-Oliver syndrome

Adams-Oliver综合征

242

Adams-Oliver syndrome

Adams-Oliver综合征

243

Meleda disease

Meleda

244

Naxos disease

Naxos

245

Olmsted syndrome

Olmsted

246

Naegeli-Franceschetti-Jadassohn syndrome

Naegeli-Franceschetti-Jadassohn综合征

247

?Olmsted syndrome, X-linked

?Olmsted综合征 X连锁遗传

248

Haim-Munk syndrome

Haim-Munk综合征

249

Vohwinkel syndrome

Vohwinkel综合征伴耳聋

250

Vohwinkel syndrome with ichthyosis

Vohwinkel综合征伴鱼鳞病

251

Ectodermal dysplasia with eyelid cysts

Schopf-Schulz-Passarge综合征

252

Urbach-Wiethe disease

Urbach-Wiethe

253

Ablepharon-macrostomia syndrome

先天性眼睑缺损-大口畸形综合征

254

Pallister-Hall syndrome

Pallister-Hall综合征

255

ADULT syndrome

ADULT综合征

256

Limb-mammary syndrome

肢体-乳腺综合征

257

Hay-Wells syndrome

Hay-Wells综合征

258

Chanarin-Dorfman syndrome

Chanarin-Dorfman综合征

259

Comel-Netherton syndrome 

Netherton综合征 

260

Sjogren-Larsson syndrome

Sjogren-Larsson综合征

261

MEND syndrome

MEND综合征

262

CK syndrome

CK综合征

263

Stargardt disease 3

Stargardt 3

264

Kahrizi syndrome

Kahrizi综合征

265

Neu-Laxova syndrome

Neu-Laxova综合征

266

Neu-Laxova syndrome

Neu-Laxova综合征

267

Carney complex

粘液瘤综合征

268

Waardenburg syndrome, type 2D

Waardenburg综合征 2D

269

Lhermitte-Duclos syndrome

Lhermitte-Duclos综合征

270

Cowden syndrome 1

Cowden综合征 1

271

Banayan-Riley-Ruvalcalba syndrom

Banayan-Riley-Ruvalcalba综合症

272

Peutz-Jeghers syndrome

Peutz-Jeghers 综合征

273

Sturge-weber syndrome

Sturge-weber综合征

274

Aicardi-Goutieres syndrome 6

Aicardi-Goutieres综合征 6

275

ABCD syndrome

ABCD综合征

276

Kindler syndrome

Kindler 综合征

277

Leopard syndrome

豹纹综合征

278

Leopard syndrome

豹纹综合征

279

Leopard syndrome

豹纹综合征

280

Noonan syndrome

Noonan综合征

281

Noonan syndrome

Noonan综合征

282

Noonan syndrome

Noonan综合征

283

Noonan syndrome

Noonan综合征

284

Noonan syndrome

Noonan综合征

285

Noonan syndrome

Noonan综合征

286

Noonan syndrome

Noonan综合征

287

Noonan syndrome

Noonan综合征

288

Noonan syndrome

Noonan综合征

289

Muir-Torre syndrome

Muir-Torre综合征

290

Muir-Torre syndrome

Muir-Torre综合征

291

Muir-Torre syndrome

Muir-Torre综合征

292

Waardenburg syndrome type 1 / 3

瓦登伯格综合征 I/III

293

Waardenburg syndrome, type 2A

瓦登伯格综合征 IIA

294

Waardenburg syndrome, type 2E

瓦登伯格综合征 IIE

295

Waardenburg syndrome, type 4A

瓦登伯格综合征 IVA

296

Waardenburg syndrome, type 4C

瓦登伯格综合征 IVC

297

Congenital giant melanocytic nevus 

先天性巨大黑素细胞痣

298

Congenital giant melanocytic nevus 

先天性巨大黑素细胞痣

299

Hermansky-Pudlak syndrometype 1

Hermansky-Pudlak综合征1

300

Hermansky-Pudlak syndrometype 2

Hermansky-Pudlak综合征2

301

Hermansky-Pudlak syndrometype 4

Hermansky-Pudlak综合征4

302

Hermansky-Pudlak syndrometype 5

Hermansky-Pudlak综合征5

303

Hermansky-Pudlak syndrometype 6

Hermansky-Pudlak综合征6

304

Hermansky-Pudlak syndrometype 7

Hermansky-Pudlak综合征7

305

Hermansky-Pudlak syndrometype 8

Hermansky-Pudlak综合征8

306

Hermansky-Pudlak syndrometype 9

Hermansky-Pudlak综合征9

307

Ehlers-Danlos syndrome due to tenascin X deficiency

埃勒斯-当洛二氏综合征(肌腱蛋白X缺乏)

308

Ehlers-Danlos syndrome, progeroid type

埃勒斯-当洛二氏综合征 早老型

309

Ehlers-Danlos syndrome, progeroid type

埃勒斯-当洛二氏综合征 早老型

310

Ehlers-Danlos syndrome,musculocontractural type

埃勒斯-当洛二氏综合征 肌肉挛缩型

311

Ehlers-Danlos syndrome,musculocontractural type

埃勒斯-当洛二氏综合征 肌肉挛缩型

312

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

埃勒斯-当洛二氏综合征伴脊柱后侧突 肌病 听力缺失

313

Marfan syndrome

马方综合征

314

Proteus syndrome

变形综合征

315

Costello syndrome

Costello综合征

316

Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic

Schimmelpenning-Feuerstein-Mims综合征 体细胞嵌合体

317

Bart-Pumphrey syndrome

Bart-Pumphrey综合征

318

Keratitis-ichthyosis-deafness syndrome

Keratitis-ichthyosis-deafness综合征 

319

Usher syndrome type 3B

Usher综合征 3B

320

Baller-Gerold syndrome

Baller-Gerold综合征

321

RAPADILINO syndrome

RAPADILINO综合征

322

Werner syndrome

Werner综合征

323

Gardner syndrome

Gardner综合征

324

Chanarin-Dorfman syndrome

Chanarin-Dorfman综合征

325

Cowden syndrome 5

Cowden综合征 5

326

CLOVES syndrome

CLOVES综合征

327

Kindler syndrome

Kindler综合征

328

Legius syndrome

Legius 综合征

329

FABRY DISEASE

FABRY 病 多发血管角质瘤

330

Kanzaki disease

Kanzaki

331

Constitutional mismatch repair deficiency syndrome

错配修复缺陷综合症

332

Constitutional mismatch repair deficiency syndrome

错配修复缺陷综合症

333

Constitutional mismatch repair deficiency syndrome

错配修复缺陷综合症

334

Constitutional mismatch repair deficiency syndrome

错配修复缺陷综合症

335

Clubbing of the fingers and toes

杵状指/

336

Hypertrophic osteoarthropathy, primary, autosomal recessive 1

原发性肥厚型骨关节病 常染色体隐性遗传 1

337

Cranioosteoarthropathy

颅骨骨关节病

338

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

关节弯曲-肾功能异常-胆汁淤积综合征

339

ACTH-independent macronodular adrenal hyperplasia

ACTH依赖性双侧肾上腺大结节增生

340

Hutchinson-gilford progeria syndrome

儿童早老症

341

Palmoplantar keratoderma,Bothnian type

波斯尼亚型PPK

342

Oculodentodigital dysplasia

眼齿趾发育不良

343

Orofacial cleft 7

口面裂 7

344

Orofacial cleft 8

口面裂 8

345

Atrioventricular septal defect 3

房室间隔缺损 3

346

Carvajal-Huerta syndrome

条纹状PPK伴羊毛状和左侧扩张性心肌病

347

{Bronchiectasis with or without elevated sweat chloride 1, modifier of}

{支气管扩张症伴或不伴汗液氯化物升高 1型 修饰型}

348

Papillon-Lefevre syndrome

PPK伴牙周病

349

Weyers acrodental dysostosis

Weyers端牙骨发育不全

350

Weyers acrodental dysostosis

Weyers端牙骨发育不全

351

Conradi-Hünermann-Happle syndrome

X-连锁点状软骨发育不良

352

Peroxisome biogenesis disorder 9B

过氧化物酶体生物合成障碍 9B

353

Congenital disorder of glycosylation, type Im

先天性糖基化障碍 Im型(鱼鳞病伴肌张力减退 四肢麻痹 癫痫)

354

Congenital disorder of glycosylation, type Iq

先天性糖基化障碍 Iq

355

Multiple sulfatase deficiency

多种硫酸酯酶缺陷症

356

Phosphoserine phosphatase deficiency

磷酸丝氨酸磷酸化酶缺乏

357

REFSUM DISEASE(Heredopathia atactica polyneuritiformis)

雷弗素姆氏病

358

Rudimentary polydactyly

残留性多指症

359

{Vitiligo-associated multiple autoimmune disease susceptibility 1}

{白癜风相关的多发性自身免疫性病 易感性 1}

360

Hyperpigmentation with or without hypopigmentat ion,familial progressive

家族性进行性色素异常沉着伴或不伴色素脱失

361

Dyschromatosis symmetrica hereditaria

遗传性对称性色素异常症

362

Dyschromatosis universalis hereditaria

遗传性泛发性色素异常症

363

Reticulate acropigmentation of Kitamura

网状肢端色素沉着 Kitamura

364

Incontinentia pigmenti

色素失禁症

365

Piebaldism

斑驳病

366

Piebaldism

斑驳病

367

Tuberous sclerosis

结节性硬化

368

Tuberous sclerosis

结节性硬化

369

Griscelli syndrome

Griscelli 综合症

370

Griscelli syndrome

Griscelli 综合症

371

Griscelli syndrome

Griscelli 综合症

372

Rothmund-Thomson syndrome

Rothmund-Thomson 综合症

373

hyper-IgE syndrome-AR

IgE综合症-常隐

374

hyper-IgE syndrome-AD

IgE综合症-常显

375

X-linked agammaglobulinemia

X-连锁无丙种球蛋白血症

376

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

377

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

378

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

379

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

380

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

381

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

382

Agammaglobulinemia, AR

常隐无丙种球蛋白血症

383

Agammaglobulinemia, AD

常显无丙种球蛋白血症

384

Immunodeficiency 31C, autosomal dominant

免疫缺陷(31C型) 常染色体显性遗传

385

Severe Combined Immunodeficiency, AR, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Omenn Syndrome

重度联合免疫缺陷症(常染色体隐性 T B细胞缺如 NK细胞影响小)Omenn综合症

386

Severe Combined Immunodeficiency, AR, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE; Omenn Syndrome

重度联合免疫缺陷症(常染色体隐性 T B细胞缺如 NK细胞影响小)Omenn综合症

387

Severe Combined Immunodeficiency, X-Linked, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE

重度联合免疫缺陷症(X-连锁,T,NK细胞缺如,B细胞影响小)

388

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative Adenosine Deaminase Deficiency

重度联合免疫缺陷症(常染色体隐性,T,B,NK细胞缺如,腺苷脱氨酶缺乏)

389

Severe Combined Immunodeficiency, Athabascan Type  T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, Radiosensitivity

重度联合免疫缺陷症(T,B细胞缺如,NK细胞影响小,有辐射敏感性)Omenn综合症

390

Severe Combined Immunodeficiency, Athabascan Type  T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, Radiosensitivity

重度联合免疫缺陷症(T,B细胞缺如,NK细胞影响小,有辐射敏感性)

391

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

重度联合免疫缺陷症(常染色体隐性,T细胞缺如,B/NK细胞影响小)

392

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive

重度联合免疫缺陷症(常染色体隐性,T细胞缺如,B/NK细胞影响小)

393

Immunodeficiency 19

免疫缺陷

394

SCID, autosomal recessive, T-negative/B-positive type

SCID 常染色体隐性遗传 T-/B+)型

395

Erythermalgia,primary

原发性红斑肢痛症

396

Psoriasis 2

银屑病 2

397

Pityriasis rubra pilaris

家族性毛发红糠疹

398

Adenomatous polyposis coli

家族性结肠息肉病

399

Piebaldism

斑驳病

400

Mast cell disease

Mast cell

401

White sponge nevus

白色海绵样痣

402

White sponge nevus

白色海绵样痣

403

Familial chronic benign pemphigus/ Hailey-Hailey disease

家族性慢性良性天疱疮

404

Keratosis follicularis/Darier dise ase/Darier-White disease

毛囊角化病

405

Porokeratosis

汗孔角化病

406

Seborrheic keratosis

脂溢性角化

407