[说明：以下内容仅供对基因芯片有兴趣的朋友们了解一下与眼科疾病相关的基因突变的情况。感谢华大基因研究院提供有关资料。]
本芯片采用基于新一代高通量测序平台的目标区域序列捕获技术，为临床医生及患者提供遗传性眼科疾病基因检测服务。通过结合变异数据库的解读与分析，发现致病基因，辅助疾病诊断。
1、技术优势：
高覆盖度：有效覆盖眼科相关283个基因外显子的96%以上。
数据有效深度：达到200X以上
灵敏度和特异性：高达99%
2、眼科芯片检测疾病分类总体概况：
|
序号
|
分类
|
基因数目
|
|
1
|
白内障
|
23
|
|
2
|
视网膜色素变性（RP）
|
58
|
|
3
|
先天性黑蒙
|
19
|
|
4
|
尤塞氏（Usher）综合症
|
10
|
|
5
|
营养不良
|
41
|
|
6
|
夜盲
|
11
|
|
7
|
色盲
|
6
|
|
8
|
视网膜病变
|
72（除营养不良及RP后为25）
|
|
9
|
黄斑病变相关
|
16
|
|
10
|
白化病
|
6
|
|
11
|
视神经萎缩
|
3
|
|
12
|
Bardet-Biedl 综合征
|
18
|
|
检测疾病
|
疾病名称（中文）
|
疾病名称（英文）
|
|
视网膜色素变性
|
视网膜色素变性19型
|
Retinitis pigmentosa 19
|
|
视网膜色素变性，青少年型
|
Retinitis pigmentosa, juvenile
|
|
|
视网膜色素变性55
|
Retinitis pigmentosa 55
|
|
|
视网膜色素变性，同轴性
|
Retinitis pigmentosa, concentric
|
|
|
视网膜色素变性50型
|
Retinitis pigmentosa-50
|
|
|
视网膜色素变性
|
Retinitis pigmentosa 54
|
|
|
视网膜色素变性17型
|
Retinitis pigmentosa 17
|
|
|
视网膜色素变性26型
|
Retinitis pigmentosa 26
|
|
|
视网膜色素变性61型
|
Retinitis pigmentosa 61
|
|
|
视网膜色素变性49型
|
Retinitis pigmentosa 49
|
|
|
视网膜色素变性45型
|
Retinitis pigmentosa 45
|
|
|
视网膜色素变性12型
|
Retinitis pigmentosa-12, autosomal recessive
|
|
|
结晶样视网膜色素变性
|
Bietti crystalline corneoretinal dystrophy
|
|
|
视网膜色素变性59型
|
Retinitis pigmentosa 59
|
|
|
视网膜色素变性25型
|
Retinitis pigmentosa 25
|
|
|
视网膜色素变性28型
|
Retinitis pigmentosa 28
|
|
|
共济失调，后柱伴视网膜色素变性
|
Ataxia, posterior column, with retinitis pigmentosa
|
|
|
视网膜色素变性后柱性共济失调
|
Posterior column ataxia with retinitis pigmentosa
|
|
|
视网膜色素变性30型
|
Retinitis pigmentosa 30
|
|
|
视网膜色素变性48
|
Retinitis pigmentosa 48
|
|
|
视网膜色素变性46型
|
Retinitis pigmentosa 46
|
|
|
视网膜色素变性10型
|
Retinitis pigmentosa 10
|
|
|
视网膜色素变性56
|
Retinitis pigmentosa 56
|
|
|
视网膜色素变性42型
|
Retinitis pigmentosa 42
|
|
|
视网膜色素变性，青少年型
|
Retinitis pigmentosa, juvenile
|
|
|
视网膜色素变性62
|
REtinitis pigmentosa 62
|
|
|
视网膜色素变性38
|
Retinitis pigmentosa 38
|
|
|
视网膜色素变性37
|
Retinitis pigmentosa 37
|
|
|
视网膜色素变性27
|
Retinitis pigmentosa 27
|
|
|
X连锁视网膜色素变性，严重型
|
X-linked retinitis pigmentosa, severe
|
|
|
视网膜色素变性43
|
Retinitis pigmentosa 43
|
|
|
视网膜色素变性40
|
Retinitis pigmentosa-40
|
|
|
隐性遗传视网膜色素变性
|
recessive retinitis pigmentosa
|
|
|
视网膜色素变性57
|
Retinitis pigmentosa 57
|
|
|
视网膜色素变性36型
|
Retinitis Pigmentosa 36; Rp36
|
|
|
视网膜色素变性41型
|
Retinitis Pigmentosa 41; Rp36
|
|
|
视网膜色素变性18型
|
Retinitis pigmentosa 18
|
|
|
视网膜色素变性11型
|
Retinitis pigmentosa 11
|
|
|
视网膜色素变性60型
|
Retinitis pigmentosa 60
|
|
|
视网膜色素变性13型
|
Retinitis pigmentosa 13
|
|
|
视网膜色素变性7型
|
Retinitis pigmentosa 7
|
|
|
视网膜色素变性
|
Retinitis pigmentosa
|
|
|
视网膜色素变性44
|
Retinitis pigmentosa 44
|
|
|
视网膜色素变性，常染色体显性或隐性
|
Retinitis pigmentosa 4, autosomal dominant or recessive
|
|
|
视网膜色素变性7型，二基因
|
Retinitis pigmentosa 7, digenic
|
|
|
视网膜色素变性1型
|
Retinitis pigmentosa 1
|
|
|
视网膜色素变性2
|
Retinitis pigmentosa 2
|
|
|
视网膜色素变性9型
|
Retinitis pigmentosa 9
|
|
|
视网膜色素变性20
|
Retinitis pigmentosa 20
|
|
|
X连锁性视网膜色素变性3型
|
Retinitis pigmentosa 3，X-linked
|
|
|
视网膜色素变性伴呼吸道感染，伴或不伴耳聋
|
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
|
|
|
视网膜色素变性47
|
Retinitis pigmentosa 47
|
|
|
视网膜色素变性35型
|
Retinitis pigmentosa 35
|
|
|
视网膜色素变性33型
|
Retinitis pigmentosa 33
|
|
|
视网膜色素变性，青少年型，常隐
|
Retinitis pigmentosa, juvenile, autosomal recessive
|
|
|
视网膜色素变性31型
|
Retinitis pigmentosa 31
|
|
|
视网膜色素变性51
|
Retinitis pigmentosa 51
|
|
|
视网膜色素变性
|
|
|
|
视网膜色素变性14型
|
Retinitis pigmentosa 14
|
|
|
视网膜色素变性39
|
Retinitis pigmentosa 39
|
|
|
视网膜色素变性58
|
Retinitis pigmentosa 58
|
|
|
视网膜色素变性和智力迟钝
|
recessive retinitis pigmentosa and mental retardation
|
|
|
白内障
|
Marner型白内障
|
Cataract, Marner type
|
|
白内障, Coppock 样
|
Cataract, Coppock-like
|
|
|
白内障, Coppock 样
|
Cataract, Coppock-like
|
|
|
白内障，斑点状，渐进性青少年发病型
|
Cataracts, punctate, progressive juvenile-onset
|
|
|
白内障，粉状
|
Cataract, pulverulent
|
|
|
白内障、智力低下和性腺功能减退综合征
|
Martsolf syndrome
|
|
|
板层白内障
|
Cataract, lamellar
|
|
|
多型性白内障
|
Cataract, Autosomal Dominant, Multiple Types 1
|
|
|
孤立型小眼畸形伴白内障2
|
Microphthalmia with cataract 2
|
|
|
孤立型小眼畸形伴白内障4
|
Microphthalmia, Isolated, With Cataract 4
|
|
|
晶状体缝线蓝色浑浊物性白内障
|
Cataract, Sutural, With Punctate And Cerulean Opacities
|
|
|
皮刺状白内障
|
Cataract, Crystalline Aculeiform
|
|
|
皮质性年龄相关性白内障
|
Cataract, age-related cortical, 2
|
|
|
青少年皮质性白内障
|
Cataract, Cortical, Juvenile-Onset
|
|
|
青少年型白内障合并小角膜、糖尿
|
Cataract, juvenile, with microcornea and glucosuria
|
|
|
绕核性带状白内障
|
Cataract, variable zonular pulverulent
|
|
|
绕核性带状白内障1型；白内障, 小带粉状1
|
Cataract, zonular pulverulent-1
|
|
|
绕核性带状白内障3型
|
Cataract, zonular pulverulent-3
|
|
|
视神经萎缩3型伴白内障
|
Optic atrophy 3 with cataract
|
|
|
微小角膜-白内障综合征
|
Cataract-microcornea syndrome
|
|
|
先天性白内障 面部畸形 神经病
|
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
|
|
|
先天性白内障X连锁
|
Cataract, congenital, X-linked
|
|
|
先天性板层白内障2型
|
Cataract, Lamellar 2
|
|
|
先天性多形性遗传性白内障
|
Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
|
|
|
先天性缝状白内障
|
Cataract, Congenital Zonular, With Sutural Opacities; Cczs
|
|
|
先天性核性白内障2
|
Cataract, Congenital Nuclear, Autosomal Recessive 2; Catcn2
|
|
|
先天性核性白内障3
|
Cataract, Congenital Nuclear, Autosomal Recessive 3; Catcn3
|
|
|
先天性后极性白内障1
|
Cataract, posterior polar, 1
|
|
|
先天性后极性白内障3
|
Cataract, posterior polar, 3
|
|
|
先天性后极性白内障4型
|
Cataract, posterior polar, 4
|
|
|
先天性蓝色点状白内障2型
|
Cataract, Congenital, Cerulean Type, 2; Cca2
|
|
|
先天性蓝色点状白内障3型
|
Cataract, Congenital, Cerulean Type, 3; Cca3
|
|
|
中央凹发育不良伴早老性白内障综合征，以及早老性白内障
|
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
|
|
|
中央粉状白内障
|
CATARACT, PULVERULENT, JUVENILE-ONSET
|
|
|
先天性黑蒙
|
先天性黑蒙症4型
|
Leber congenital amaurosis, autosomal recessive
|
|
隐性利伯氏先天性黑蒙
|
recessive Leber congenital amaurosis
|
|
|
先天性黑朦10
|
Leber congenital amaurosis 10
|
|
|
先天性黑蒙症8型
|
Leber congenital amaurosis 8
|
|
|
先天性黑蒙症
|
Leber congenital amaurosis, autosomal dominant
|
|
|
先天性黑蒙症7型
|
Leber congenital amaurosis 7
|
|
|
先天性黑蒙症1型
|
Leber congenital amaurosis 1
|
|
|
先天性黑蒙症11型
|
Leber congenital amaurosis 11
|
|
|
隐性先天性黑蒙
|
recessive Leber congenital amaurosis
|
|
|
利伯先天性黑蒙16
|
Leber congenital amaurosis 16
|
|
|
先天性黑蒙症5型
|
Leber congenital amaurosis 5
|
|
|
先天性黑蒙症14型
|
Leber congenital amaurosis 14
|
|
|
隐性先天性黑蒙
|
recessive Leber congenital amaurosis
|
|
|
先天性静止性黑蒙1A型
|
Night blindness, congenital stationary, type 1A
|
|
|
先天性黑蒙症12型
|
Leber Congenital Amaurosis 12; Lca12
|
|
|
先天性黑蒙症13型
|
Leber Congenital Amaurosis 13; Lca13
|
|
|
先天性黑蒙症2型
|
Leber congenital amaurosis 2
|
|
|
先天性黑蒙症6型
|
Leber congenital amaurosis 6
|
|
|
先天性黑蒙症3型
|
Leber congenital amaurosis 3
|
|
|
先天性黑蒙症15型
|
Leber congenital amaurosis 15
|
|
|
眼皮肤白化病
|
X连锁眼白化病
|
X-linked ocular albinism (XLOA)
|
|
眼白化病，双基因型
|
ocular albinism, digenic
|
|
|
眼皮肤白化病2型
|
oculocutaneous albinism type 2(OCA2)
|
|
|
白化病，棕色眼皮肤
|
Albinism, brown oculocutaneous
|
|
|
眼皮肤白化病4型
|
Oculocutaneous albinism type 4 (OCA4)
|
|
|
眼皮肤白化病1a型
|
Albinism, oculocutaneous, type IA
|
|
|
眼皮肤白化病1b型
|
AlAlbinism, oculocutaneous, type IB
|
|
|
眼皮肤白化病3型
|
oculocutaneous albinism type 3(OCA3)
|
|
|
夜盲
|
先天性静止性夜盲2B型
|
Night blindness, congenital stationary, type 2B
|
|
先天性夜盲，静止型，X连锁，2A型
|
Night blindness, congenital stationary, X-linked, type 2A
|
|
|
先天性夜盲症3型
|
Night Blindness, Congenital Stationary, Autosomal Dominant 3
|
|
|
夜盲，先天静止型，1E 型
|
Night blindness, congenital stationary, type 1E
|
|
|
小口氏先天性夜盲症-2
|
Oguchi disease-2
|
|
|
夜盲，先天静止型，1B 型
|
Night blindness, congenital stationary, type 1B
|
|
|
先天性夜盲症，常染色体显性2型
|
Night blindness, congenital stationary, autosomal dominant 2
|
|
|
先天性夜盲症1型
|
Night Blindness, Congenital Stationary, Autosomal Dominant 1
|
|
|
小口氏先天性夜盲症
|
Oguchi Disease 1
|
|
|
先天性静止性夜盲ID型
|
Night blindness, congenital stationary, type 1D
|
|
|
先天性夜盲症1c型
|
Night Blindness, Congenital Stationary, Type 1C
|
|
|
色盲
|
全色盲-2
|
Achromatopsia-2
|
|
全色盲3型
|
Achromatopsia 3; Achm3
|
|
|
4型全色盲
|
Achromatopsia-4
|
|
|
红色色盲
|
Colorblindness, protan
|
|
|
蓝色锥体性全色盲
|
Blue cone monochromacy
|
|
|
蓝色色盲
|
Colorblindness, tritan
|
|
|
绿色色盲
|
Colorblindness, deutan
|
|
|
蓝色锥体性全色盲
|
Blue cone monochromacy
|
|
|
黄斑病变相关
|
年龄相关性黄斑变性
|
Macular Degeneration, Age-Related, 2
|
|
2型视网膜黄斑营养不良
|
Macular dystrophy, retinal, 2
|
|
|
Best黄斑营养不良
|
Best macular dystrophy
|
|
|
X连锁黄斑变性萎缩
|
Macular degeneration, X-linked atrophic
|
|
|
靶心黄斑病
|
Maculopathy, bull's-eye
|
|
|
伴有青少年黄斑营养不良的先天性稀毛症
|
Hypotrichosis, congenital, with juvenile macular dystrophy
|
|
|
成年发病型卵黄状黄斑营养不良
|
Vitelliform macular dystrophy, adult-onset
|
|
|
放射状黄斑玻璃疣
|
dominant radial, macular drusen（OMMI上与上面是同一个编号）
|
|
|
黄斑变性
|
macular dystrophy
|
|
|
黄斑变性（伴晶状体悬韧带）
|
dominant macular dystrophy with lens zonules
|
|
|
黄斑病，IMPG2相关
|
Maculopathy, IMPG2-related
|
|
|
黄斑营养不良
|
Macular dystrophy, autosomal dominant, chromosome 6-linked
|
|
|
黄斑中心凹营养不良，成人型，脉络膜新生血管形成
|
Foveomacular dystrophy, adult-onset, with choroidal neovascularization
|
|
|
老年黄斑变性6
|
Macular degeneration, age-related, 6
|
|
|
年龄相关性黄斑变性1型
|
{Macular degeneration, age-related, 1}
|
|
|
年龄相关性黄斑变性3型
|
Macular Degeneration, Age-Related, 3; Armd3
|
|
|
青少年黄斑变性
|
Macular degeneration, juvenile
|
|
|
图形样黄斑营养不良
|
Macular dystrophy, patterned
|
|
|
隐匿性黄斑营养不良
|
Occult macular dystrophy
|
|
|
隐形黄斑营养不良
|
recessive macular dystrophy
|
|
|
隐性黄斑变性疾病，青少年型和迟发型
|
recessive Stargardt disease, juvenile and late onset
|
|
|
视网膜其他病变
|
2型视网膜黄斑营养不良
|
Macular dystrophy, retinal, 2
|
|
Bothnia 视网膜营养不良
|
Bothnia retinal dystrophy607474
|
|
|
Doyne蜂巢状视网膜营养性萎缩
|
Doyne honeycomb retinal dystrophy
|
|
|
Senior-Loken综合征 1型（肾视网膜营养不良4型）
|
SENIOR-LOKEN SYNDROME 4
|
|
|
Sveinsson的脉络膜视网膜萎缩
|
Sveinsson Chorioretinal Atrophy
|
|
|
X连锁视网膜撕裂症
|
Retinoschisis，X-linked
|
|
|
X连锁隐性家族性渗出性玻璃体视网膜病变
|
familial exudative vitreoretinopathy (FEVR).
|
|
|
白点状视网膜炎
|
Retinitis punctata albescens
|
|
|
白点状视网膜炎
|
Retinitis punctata albescens
|
|
|
回旋状脉络膜视网膜萎缩症
|
Gyrate atrophy of choroid and retina with or without ornithinemia
|
|
|
家族型渗出性玻璃体视网膜病变
|
Exudative Vitreoretinopathy 5
|
|
|
家族性肾视网膜综合征
|
Senior-Loken syndrome 7
|
|
|
精神发育迟滞，躯干肥胖，视网膜萎缩，小阴茎
|
Mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
|
|
色素性静脉旁视网膜脉络膜萎缩 Leber氏先天性黑蒙 色素性视网膜炎
|
Pigmented paravenous chorioretinal /atrophy Leber congenital amaurosis 8 / Retinitis pigmentosa-12, autosomal recessive
|
|
|
渗出性玻璃体视网膜病变
|
Exudative vitreoretinopathy
|
|
|
视网膜变性，常染色体隐性遗传，集群色素型
|
Retinal degeneration, autosomal recessive, clumped pigment type
|
|
|
视网膜剥离和枕部脑膨出综合征
|
Knobloch Syndrome, Type I
|
|
|
视网膜脉络膜病变
|
Vitreoretinochoroidopathy
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视网膜血管病变伴脑脑白质营养不良
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Vasculopathy, retinal, with cerebral leukodystrophy
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视网膜营养不良，早发，并垂体功能障碍
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Retinal dystrophy, early-onset, and pituitary dysfunction
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视网膜营养不良，早发严重型
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Retinal dystrophy, early-onset severe
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视网膜营养不良，早发严重型
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Retinal dystrophy, early-onset severe
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视锥视杆细胞营养不良伴内部视网膜病变
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recessive cone-rod dystrophy with inner retinopathy
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晚发性视网膜变性
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Retinal degeneration, late-onset, autosomal dominant
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雪花型玻璃体视网膜变性
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Snowflake vitreoretinal degeneration
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早产儿视网膜病变 家族性渗出性玻璃体视网膜病变
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Retinopathy of prematurity / Exudative vitreoretinopathy
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视神经萎缩
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视神经萎缩1型
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Optic Atrophy 1; Opa1
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视神经萎缩，伴或不伴耳聋、眼肌麻痹、肌病、共济失调和神经病
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Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
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视神经萎缩3型伴白内障
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Optic atrophy 3 with cataract
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视神经萎缩7型
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Optic Atrophy 7; Opa7
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色素性静脉旁视网膜脉络膜萎缩
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Pigmented paravenous chorioretinal
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营养不良
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视网膜营养不良，早发严重型
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Retinal dystrophy, early-onset severe
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2型视网膜黄斑营养不良
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Macular dystrophy, retinal, 2
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Avellino角膜营养不良
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Corneal dystrophy, Avellino type
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Best黄斑营养不良
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Best macular dystrophy
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Bothnia 视网膜营养不良
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Bothnia retinal dystrophy607474
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Schnyder结晶状角膜营养不良
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Corneal dystrophy, crystalline, of Schnyder
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X连锁性视锥细胞与视锥杆细胞营养不良1型
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Cone-rod dystrophy-1 ，X-linked
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斑状角膜营养不良
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Macular corneal dystrophy
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伴有青少年黄斑营养不良的先天性稀毛症
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Hypotrichosis, congenital, with juvenile macular dystrophy
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成年发病型卵黄状黄斑营养不良
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Vitelliform macular dystrophy, adult-onset
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格子状角膜营养不良1型
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Corneal dystrophy, lattice type I
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格子状角膜营养不良IIIa型
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Corneal dystrophy, lattice type IIIA
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后多形性角膜营养不良
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Corneal dystrophy, hereditary polymorphous posterior
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黄斑营养不良
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Macular dystrophy, autosomal dominant, chromosome 6-linked
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黄斑中心凹营养不良，成人型，脉络膜新生血管形成
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Foveomacular dystrophy, adult-onset, with choroidal neovascularization
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家族遗传性颗粒型角膜营养不良
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Corneal dystrophy, Groenouw type I
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假炎症性眼底营养不良
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Sorsby fundus dystrophy,Pseudoinflammatory
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角膜斑状营养不良
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Corneal fleck dystrophy
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角膜上皮基底膜营养不良
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Corneal dystrophy, epithelial basement membrane
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角膜营养不良， Thiel-Behnke型
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Corneal dystrophy, Thiel-Behnke type
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角膜营养不良，Reis-Bucklers型
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Corneal dystrophy, Reis-Bucklers type
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纽芬兰视杆视锥营养不良
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Newfoundland rod-cone dystrophy
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视网膜血管病变伴脑脑白质营养不良
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Vasculopathy, retinal, with cerebral leukodystrophy
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视网膜营养不良，早发，并垂体功能障碍
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Retinal dystrophy, early-onset, and pituitary dysfunction
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视网膜营养不良，早发严重型
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Retinal dystrophy, early-onset severe
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视锥杆细胞营养不良
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Cone-rod dystrophy
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视锥视杆细胞营养不良14型
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Cone-rod dystrophy 14
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视锥视杆细胞营养不良伴内部视网膜病变
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recessive cone-rod dystrophy with inner retinopathy
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视锥细胞视杆细胞营养不良 15型
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Cone-rod dystrophy 15
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视锥细胞营养不良3a型
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Retinal cone dystrophy 3
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视锥细胞营养不良3b型
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Retinal cone dystrophy 3B
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视锥细胞营养不良3型
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Cone dystrophy-3
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视锥细胞营养不良4型
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Retinal cone dystrophy 4
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视锥细胞营养不良4型
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Cone dystrophy 4
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视锥细胞与视杆细胞营养不良
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Cone-rod dystrophy
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视锥细胞与视杆细胞营养不良3型
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Cone-rod dystrophy 3 ；CORD3
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视锥细胞与视锥杆细胞营养不良10型
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Cone-rod dystrophy 10
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视锥细胞与视锥杆细胞营养不良11型
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Cone-rod dystrophy 11
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视锥细胞与视锥杆细胞营养不良12型
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Cone-rod dystrophy 12
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视锥细胞与视锥杆细胞营养不良13型
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Cone-rod dystrophy 13
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视锥细胞与视锥杆细胞营养不良2型（视细胞营养不良）
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Cone-rod retinal dystrophy-2
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视锥细胞与视锥杆细胞营养不良6型
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Cone-rod dystrophy 6
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视锥细胞与视锥杆细胞营养不良7型
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Cone-rod dystrophy 7
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毯层脉络膜营养不良
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tapetochoroidal dystrophy （与上面是同一种疾病）
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图形样黄斑营养不良
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Macular dystrophy, patterned
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先天性间质性角膜营养不良
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Corneal dystrophy, congenital stromal
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小角膜，锥杆营养不良后（巩膜）葡萄肿
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Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
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遗传性青少年性角膜上皮营养不良
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Meesmann corneal dystrophy
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遗传性青少年性角膜上皮营养不良
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Meesmann corneal dystrophy
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隐匿性黄斑营养不良
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Occult macular dystrophy
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隐形黄斑营养不良
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recessive macular dystrophy
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中心性晕轮样脉络膜营养不良2
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Choriodal dystrophy, central areolar 2
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锥杆细胞营养不良5型
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Cone-rod dystrophy 5
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锥杆营养不良，X连锁，3型
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Cone-rod dystrophy, X-linked, 3
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锥-杆细胞营养不良9
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Cone-rod dystrophy 9
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小眼
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小眼畸形,综合征2型
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Microphthalmia, Syndromic 2
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小眼畸形综合征6型
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Microphthalmia, Syndromic 6; Mcops6
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孤立型小眼畸形2 （先天性小眼畸形）
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Microphthalmia, Isolated 2; Mcop2
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孤立型小眼畸形伴眼缺损3
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Microphthalmia, Isolated, With Coloboma 3; Mcopcb3
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孤立型小眼畸形伴白内障4
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Microphthalmia, Isolated, With Cataract 4
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孤立型小眼畸形4
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Microphthalmia, Isolated 4; Mcop4
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小眼畸形伴缺损6型
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Microphthalmia with coloboma 6, digenic
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小眼畸形综合征7型
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Microphthalmia, Syndromic 7; Mcops7
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小眼畸形孤立型 5
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Microphthalmia, isolated 5
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小眼球 2
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Nanophthalmos 2
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小眼畸形综合征5型
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Microphthalmia, Syndromic 5; Mcops5
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孤立型小眼畸形3
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Microphthalmia, Isolated 3; Mcop3
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孤立型小眼畸形伴眼缺损5
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Microphthalmia With Coloboma 5
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孤立型小眼畸形伴白内障2
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Microphthalmia with cataract 2
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小眼畸形综合征3型
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Microphthalmia, Syndromic 3; Mcops3
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小眼畸形综合征9型
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Microphthalmia, Syndromic 9
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青光眼
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虹膜发育不良和青光眼
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Iris hypoplasia and glaucoma
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青光眼，正常张力，易感
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{Glaucoma, normal tension, susceptibility to}
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眼球震颤
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先天性X-连锁眼球震颤1型
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Congenital Nystagmus 1, X-Linked
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先天性眼球震颤6型，X连锁
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Congenital Nystagmus 6, X-linked
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眼球震颤，婴儿周期性交替
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Nystagmus, infantile periodic alternating, X-linked
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先天性广泛眼外肌纤维化综合征
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先天性眼外肌纤维化3A型
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Congenital Fibrosis Of Extraocular Muscles（CFEOM）,3A, With Or Without Extraocular Involvement
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先天性眼外肌纤维化1型
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Congenital Fibrosis Of Extraocular Muscles, 1
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先天性眼外肌纤维化3B型
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Fibrosis of extraocular muscles, congenital, 3B
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Bardet-Biedl 综合征
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Bardet-Biedl 综合征10型
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Bardet-Biedl syndrome 10
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Bardet-Biedl 综合征12型
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Bardet-Biedl syndrome 12
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Bardet-Biedl 综合征2型
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Bardet-Biedl syndrome 2
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Bardet-Biedl 综合征4型
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Bardet-Biedl syndrome 4
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Bardet-Biedl 综合征5型
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Bardet-Biedl syndrome 5
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Bardet-Biedl 综合征7型
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Bardet-Biedl syndrome 7
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Bardet-Biedl 综合征9型
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Bardet-Biedl syndrome 9
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Bardet-Biedl 综合征1型
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Bardet-Biedl syndrome 1
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Bardet-Biedl 综合征 13
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Bardet-Biedl syndrome 13
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Bardet-Biedl 综合征11
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Bardet-Biedl syndrome 11
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Bardet-Biedl 综合征6
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Bardet-Biedl syndrome 6
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Bardet-Biedl 综合征8
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Bardet-Biedl syndrome 8
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Bardet-Biedl综合征1,调节的
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Bardet-Biedl syndrome 1, modifier of
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Bardet-Biedl综合征3
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Bardet-Biedl syndrome 3
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Bardet-Biedl综合症14
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Bardet-Biedl syndrome 14
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Hermansky-Pudlak 综合征
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Hermansky-Pudlak 综合征 8
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Hermansky-Pudlak syndrome 8
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Hermansky-Pudlak 综合征1
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Hermansky-Pudlak syndrome 1
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Hermansky-Pudlak 综合征3
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Hermansky-Pudlak syndrome 3
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Hermansky-Pudlak 综合征4
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Hermansky-Pudlak syndrome 4
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Hermansky-Pudlak 综合征5
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Hermansky-Pudlak syndrome 5
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Hermansky-Pudlak 综合征6
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Hermansky-Pudlak syndrome 6
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Hermansky-Pudlak综合征7
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Hermansky-Pudlak syndrome 7
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Joubert 综合征
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Joubert 综合征12
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Joubert syndrome 12
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Joubert氏综合症2型
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Joubert Syndrome 3
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Joubert氏综合症2型
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Joubert Syndrome 2
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Joubert氏综合症4型
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Joubert Syndrome 4
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Joubert氏综合症6型
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Joubert Syndrome 6
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Joubert氏综合症7型
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Joubert Syndrome 7
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Joubert氏综合症8型
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Joubert Syndrome 8
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Joubert综合征1型
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Joubert syndrome 1
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Joubert综合征5型
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Joubert syndrome 5
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Joubert综合征9型
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Joubert syndrome 9
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Jouber综合征10型
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Joubert Syndrome 10
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Senior-Loken综合征
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Senior-Loken综合征 1型
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Senior-Loken syndrome-1
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Senior-Loken综合征 1型（肾视网膜营养不良4型）
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SENIOR-LOKEN SYNDROME 4
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Senior-Loken综合征5型
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Senior-Loken syndrome 5
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Senior-Loken综合征6
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Senior-Loken syndrome 6
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Zellweger 综合征
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Zellweger 综合征-1
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Zellweger syndrome-1
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Zellweger 综合征-3
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Zellweger syndrome-3
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阿克森费尔德-里格尔综合征
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阿克森费尔德-里格尔综合征1型
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Axenfeld-Rieger Syndrome, Type 1; Rieg1
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阿克森费尔德-里格尔综合征2型
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Axenfeld-Rieger Syndrome, Type 3; Rieg3
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尤塞氏综合征
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尤塞氏综合症，1D/F 二基因型的
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Usher syndrome, type 1D/F digenic
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尤塞氏综合症，1D型
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Usher syndrome, type 1D
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尤塞氏综合症1C型
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Usher syndrome, type 1C
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尤塞氏综合症1D/F，二基因的
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Usher syndrome, type 1D/F digenic
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尤塞氏综合症1f型
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Usher syndrome type 1f
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尤塞氏综合症1G型
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Usher syndrome, type 1G
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尤塞氏综合症2A型
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Usher syndrome, type 2A
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尤塞氏综合症IIA型
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Retinal disease in Usher syndrome type IIA, modifier of
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尤塞氏综合症IIc型
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Usher syndrome, type IIC, GPR98/PDZD7 digenic
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尤塞综合征，1B型
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Usher syndrome, type 1B
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尤塞综合征，2C型
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Usher syndrome, type 2C
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尤塞综合征，2D型
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Usher syndrome, type 2D
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尤塞综合征，3A型
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Usher syndrome, type 3A
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无虹膜
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先天性无虹膜
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Congenital Aniridia
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