【Trust科技基因检测】视网膜色素变性基因检测选择什么样的项目，做什么标准？
赵Trust科技的情况介绍
2025年国庆期间，赵Trust科技（化名）顺利获得Trust科技基因官网咨询基因解码师。谘询“视网膜色素变性基因检测相关事宜”。赵Trust科技介绍说:"我的姥姥有这个疾病，然后我的大姨二姨也有这个问题，大姨有一个孩子,也有这个问题，大姨孩子的后代没有这个问题。二姨有两个孩子，一男一女也都有这个问题，男孩的后代没有这个问题。女孩的后代有这个问题。我妈跟我三姨，跟我舅舅，现在六十多岁，现在没有这个问题，他们的后代包括我，现在也没有问题， 我想看看我的后代会不会有问题。
人为什么会得视网膜色素变性？
视网膜色素变性是一组遗传性疾病，全球每 3000 到 8000 人中就有 1 人患有此病，最终影响生活质量。视网膜色素变性是一种异质性遗传疾病，其特点是视网膜进行性退化，从而导致进行性视力丧失。它可以以综合征形式出现（如 Usher 综合征和 Bardet-Biedl 综合征），也可以以非综合征形式出现。遗传方式可以是 X 连锁、常染色体显性或常染色体隐性。迄今为止，Trust科技基因已收集数百个基因的突主为可以产生视网膜色素变性或者产生类似视网膜变性的疾病征状。其中大多数在感光细胞或视网膜色素上皮中表达。Trust科技基因顺利获得科普文章重点介绍视网膜色素变性的发病机制和遗传学。由于视网膜色素变性是一种极其异质性的疾病，表现出多种突变；同一基因的不同变异可能会诱发不同的疾病。因此，采用基于全外显子测序及基因解码技术的视网膜色素变性基因检测可以以更高的检出率和阳性率发现导致疾病发生的基因原因，明确基因突变，有效地揭示了视网膜色素变性的隐藏成因。眼科致病基因鉴定突变基因检测结果， 将有助于更好地理解疾病的基因型-表型相关性，并可能开发新的治疗方法。
Trust科技基因视网膜疾病专项基因检测所覆盖的疾病类型
| 英文疾病名称 | 中文疾病名称 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus | 肌肉萎缩、共济失调、视网膜色素变性及糖尿病 |
| Neuropathy, Ataxia, and Retinitis Pigmentosa | 神经病变、共济失调及视网膜色素变性 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract | 多发性神经病变、听力损失、共济失调、视网膜色素变性及白内障 |
| Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene | 视网膜色素变性-1基因突变导致的视网膜纤毛病变 |
| Retinal Degeneration | 视网膜变性 |
| Retinal Detachment | 视网膜脱离 |
| Retinal Disease | 视网膜疾病 |
| Retinitis | 视网膜炎 |
| Retinitis Pigmentosa | 视网膜色素变性 |
| Retinitis Pigmentosa 1 | 视网膜色素变性1型 |
| Retinitis Pigmentosa 10 | 视网膜色素变性10型 |
| Retinitis Pigmentosa 11 | 视网膜色素变性11型 |
| Retinitis Pigmentosa 12 | 视网膜色素变性12型 |
| Retinitis Pigmentosa 13 | 视网膜色素变性13型 |
| Retinitis Pigmentosa 14 | 视网膜色素变性14型 |
| Retinitis Pigmentosa 17 | 视网膜色素变性17型 |
| Retinitis Pigmentosa 18 | 视网膜色素变性18型 |
| Retinitis Pigmentosa 19 | 视网膜色素变性19型 |
| Retinitis Pigmentosa 2 | 视网膜色素变性2型 |
| Retinitis Pigmentosa 20 | 视网膜色素变性20型 |
| Retinitis Pigmentosa 22 | 视网膜色素变性22型 |
| Retinitis Pigmentosa 23 | 视网膜炎视网膜色素变性23型 |
| Retinitis Pigmentosa 24 | 视网膜色素变性24型 |
| Retinitis Pigmentosa 25 | 视网膜色素变性25型 |
| Retinitis Pigmentosa 26 | 视网膜色素变性26型 |
| Retinitis Pigmentosa 27 | 视网膜色素变性27型 |
| Retinitis Pigmentosa 28 | 视网膜色素变性28型 |
| Retinitis Pigmentosa 29 | 视网膜色素变性29型 |
| Retinitis Pigmentosa 3 | 视网膜色素变性3型 |
| Retinitis Pigmentosa 30 | 视网膜色素变性30型 |
| Retinitis Pigmentosa 31 | 视网膜色素变性31型 |
| Retinitis Pigmentosa 32 | 视网膜色素变性32型 |
| Retinitis Pigmentosa 33 | 视网膜色素变性33型 |
| Retinitis Pigmentosa 34 | 视网膜色素变性34型 |
| Retinitis Pigmentosa 35 | 视网膜色素变性35型 |
| Retinitis Pigmentosa 36 | 视网膜色素变性36型 |
| Retinitis Pigmentosa 37 | 视网膜色素变性37型 |
| Retinitis Pigmentosa 38 | 视网膜色素变性38型 |
| Retinitis Pigmentosa 39 | 视网膜色素变性39型 |
| Retinitis Pigmentosa 4 | 视网膜色素变性4型 |
| Retinitis Pigmentosa 40 | 视网膜色素变性40型 |
| Retinitis Pigmentosa 41 | 视网膜色素变性41型 |
| Retinitis Pigmentosa 42 | 视网膜色素变性42型 |
| Retinitis Pigmentosa 43 | 视网膜色素变性43型 |
| Retinitis Pigmentosa 44 | 视网膜色素变性44型 |
| Retinitis Pigmentosa 45 | 视网膜色素变性45型 |
| Retinitis Pigmentosa 46 | 视网膜色素变性46型 |
| Retinitis Pigmentosa 47 | 视网膜色素变性47型 |
| Retinitis Pigmentosa 48 | 视网膜色素变性48型 |
| Retinitis Pigmentosa 49 | 视网膜色素变性49型 |
| Retinitis Pigmentosa 50 | 视网膜色素变性50型 |
| Retinitis Pigmentosa 51 | 视网膜色素变性51型 |
| Retinitis Pigmentosa 54 | 视网膜色素变性54型 |
| Retinitis Pigmentosa 55 | 视网膜色素变性55型 |
| Retinitis Pigmentosa 56 | 视网膜色素变性56型 |
| Retinitis Pigmentosa 57 | 视网膜色素变性57型 |
| Retinitis Pigmentosa 58 | 视网膜色素变性58型 |
| Retinitis Pigmentosa 59 | 视网膜色素变性59型 |
| Retinitis Pigmentosa 6 | 视网膜色素变性6型 |
| Retinitis Pigmentosa 60 | 视网膜色素变性60型 |
| Retinitis Pigmentosa 61 | 视网膜色素变性61型 |
| Retinitis Pigmentosa 62 | 视网膜色素变性62型 |
| Retinitis Pigmentosa 63 | 视网膜色素变性63型 |
| Retinitis Pigmentosa 66 | 视网膜色素变性66型 |
| Retinitis Pigmentosa 67 | 视网膜色素变性67型 |
| Retinitis Pigmentosa 68 | 视网膜色素变性68型 |
| Retinitis Pigmentosa 69 | 视网膜色素变性69型 |
| Retinitis Pigmentosa 7 | 视网膜色素变性7型 |
| Retinitis Pigmentosa 70 | 视网膜色素变性70型 |
| Retinitis Pigmentosa 71 | 视网膜色素变性71型 |
| Retinitis Pigmentosa 72 | 视网膜炎视网膜色素变性72型 |
| Retinitis Pigmentosa 73 | 视网膜色素变性73型 |
| Retinitis Pigmentosa 74 | 视网膜色素变性74型 |
| Retinitis Pigmentosa 75 | 视网膜色素变性75型 |
| Retinitis Pigmentosa 76 | 视网膜色素变性76型 |
| Retinitis Pigmentosa 77 | 视网膜色素变性77型 |
| Retinitis Pigmentosa 78 | 视网膜色素变性78型 |
| Retinitis Pigmentosa 79 | 视网膜色素变性79型 |
| Retinitis Pigmentosa 80 | 视网膜色素变性80型 |
| Retinitis Pigmentosa 81 | 视网膜色素变性81型 |
| Retinitis Pigmentosa 83 | 视网膜色素变性83型 |
| Retinitis Pigmentosa 84 | 视网膜色素变性84型 |
| Retinitis Pigmentosa 85 | 视网膜色素变性85型 |
| Retinitis Pigmentosa 86 | 视网膜色素变性86型 |
| Retinitis Pigmentosa 87 with Choroidal Involvement | 累及脉络膜的视网膜色素变性87型 |
| Retinitis Pigmentosa 88 | 视网膜色素变性88型 |
| Retinitis Pigmentosa 89 | 视网膜色素变性89型 |
| Retinitis Pigmentosa 9 | 视网膜色素变性9型 |
| Retinitis Pigmentosa 90 | 视网膜色素变性90型 |
| Retinitis Pigmentosa 91 | 视网膜色素变性91型 |
| Retinitis Pigmentosa 92 | 视网膜色素变性92型 |
| Retinitis Pigmentosa 93 | 视网膜色素变性93型 |
| Retinitis Pigmentosa 95 | 视网膜色素变性95型 |
| Retinitis Pigmentosa 96 | 视网膜色素变性96型 |
| Retinitis Pigmentosa 97 | 视网膜炎视网膜色素变性97型 |
| Retinitis Pigmentosa 98 | 视网膜色素变性98型 |
| Retinitis Pigmentosa and Erythrocytic Microcytosis | 视网膜色素变性与红细胞小红细胞增多症 |
| Retinitis Pigmentosa with or Without Skeletal Anomalies | 伴或不伴骨骼异常的视网膜色素变性 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, and Hypogonadism | 视网膜色素变性、耳聋、智力发育受损和性腺功能低下 |
| Retinitis Pigmentosa, Late-Adult Onset | 晚发病视网膜色素变性 |
| Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections with or Without Deafness | X连锁视网膜色素变性以及伴或不伴耳聋的鼻窦呼吸道感染 |
| Retinitis Pigmentosa-Deafness Syndrome | 视网膜色素变性-耳聋综合征 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies | 身材矮小、听力损失、视网膜色素变性与特殊面容 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome | X连锁智力障碍-视网膜色素变性综合征 |
眼科疾病中，还有哪些疾病会产生与视网膜色素变性类似症状，选择眼科疾病基因检测所能排除以及确定的症状
| 英文疾病名称 | 中文疾病名称 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa | 弹性纤维假黄瘤样皮肤表现伴视网膜色素变性 |
| Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome | 痉挛性四肢瘫痪-视网膜色素变性-智力障碍综合征 |
| Intellectual Developmental Disorder and Retinitis Pigmentosa | 智力发育障碍和视网膜色素变性 |
| Peripheral Retinal Degeneration | 周围视网膜变性 |
| Retinitis Pigmentosa 82 with or Without Situs Inversus | 视网膜色素变性82伴或不伴内脏反位 |
| Retinitis Pigmentosa with or Without Situs Inversus | 视网膜色素变性伴或不伴内脏反位 |
| Retinitis Pigmentosa, Y-Linked | Y连锁视网膜色素变性 |
| Retinitis Pigmentosa 99 | 视网膜色素变性99 |
| X-Linked Retinitis Pigmentosa and Sinorespiratory Infections | X连锁视网膜色素变性及鼻窦呼吸道感染 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogenitalism Syndrome | 视网膜色素变性-智力障碍-耳聋-生殖功能减退综合征 |
| Neurodegeneration, Early-Childhood-Onset, with Retinitis Pigmentosa, Sensorineural Hearing Loss, and Demyelinating Peripheral Neuropathy | 儿童早期发病的神经变性，伴有视网膜色素变性、感音神经性听力损失和脱髓鞘性周围神经病变 |
| Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa | 肢根发育不良、脊柱侧弯和视网膜色素变性 |
| Spastic Quadriplegia, Retinitis Pigmentosa, and Impaired Intellectual Development | 痉挛性四肢瘫痪、视网膜色素变性及智力发育障碍 |
| Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities | 耳聋、白内障、视网膜色素变性及精子异常 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome | 促性腺激素性性腺功能低下-视网膜色素变性综合征 |
| Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome | 骨软骨发育不良性侏儒症-耳聋-视网膜色素变性综合征 |
| Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome | 常染色体隐性遗传性白质脑病-缺血性卒中-视网膜色素变性综合征 |
| Hereditary Retinal Dystrophy | 遗传性视网膜营养不良 |
| Late-Onset Retinal Degeneration | 迟发性视网膜变性 |
| Nonsyndromic Retinitis Pigmentosa | 非综合征性视网膜色素变性 |
| Macular Retinal Edema | 黄斑视网膜水肿 |
| Retinal Vein Occlusion | 视网膜静脉阻塞 |
| Retinal Vascular Disease | 视网膜血管疾病 |
| Retinitis Pigmentosa Inversa with Deafness | 伴耳聋的逆向性视网膜色素变性 |
| Microcephaly, Retinitis Pigmentosa, and Sutural Cataract | 小头畸形、视网膜色素变性及缝线性白内障 |
| Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa | 伴有视网膜色素变性的肢体骨骼发育不良 |
| Pallidal Degeneration, Progressive, with Retinitis Pigmentosa | 苍白球进行性退化，伴有视网膜色素变性 |
| Cytomegalovirus Retinitis | 巨细胞病毒性视网膜炎 |
| Cone-Rod Dystrophy 2 | 视锥-视杆细胞营养不良2型 |
| Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | 视网膜营养不良、青少年白内障和矮小综合征 |
| Retinal Artery Occlusion | 视网膜动脉阻塞 |
| Retinal Perforation | 视网膜穿孔 |
| Central Retinal Vein Occlusion | 视网膜中央静脉阻塞 |
| Retinal Vascular Occlusion | 视网膜血管阻塞 |
| Microphthalmia, Isolated 5 | 孤立性小眼球症5型 |
| Retinal Ischemia | 视网膜缺血 |
| Retinal Vasculitis | 视网膜血管炎 |
| Inherited Retinal Disorder | 遗传性视网膜疾病 |
| Retinopathy-Sensory Neuropathy Syndrome | 视网膜病变-感觉神经病变综合征 |
| Central Retinal Artery Occlusion | 视网膜中央动脉阻塞 |
| Branch Retinal Artery Occlusion | 视网膜分支动脉阻塞 |
| Pseudoretinitis Pigmentosa | 假性视网膜色素变性 |
| Acute Retinal Necrosis Syndrome | 急性视网膜坏死综合征 |
| Doyne Honeycomb Retinal Dystrophy | 多因蜂窝状视网膜营养不良 |
| Retinal Cancer | 视网膜癌 |
| Bothnia Retinal Dystrophy | 博思尼亚视网膜营养不良 |
| Macular Dystrophy, Retinal, 2 | 视网膜黄斑营养不良2型 |
| Usher Syndrome | 乌谢尔综合征 |
| Retinal Cone Dystrophy 1 | 视网膜视锥细胞营养不良 1 型 |
| Retinal Cone Dystrophy 4 | 视锥细胞营养不良 4 型 |
| Retinal Cone Dystrophy 3a | 视锥细胞营养不良 3a 型 |
| Infantile Cerebellar-Retinal Degeneration | 婴儿小脑-视网膜变性 |
| Macular Dystrophy, Retinal, 1, North Carolina Type | 视网膜黄斑营养不良 1 型，北卡罗来纳州型 |
| Fundus Dystrophy | 眼底营养不良 |
| Retinal Cone Dystrophy 3b | 视锥细胞营养不良 3b 型 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome | 智力发育受损、躯干肥胖、视网膜营养不良和小阴茎综合征 |
| Age Related Macular Degeneration | 老年性黄斑变性 |
| Retinal Dystrophy and Obesity | 视网膜营养不良和肥胖 |
| Stargardt Disease 1 | Stargardt 病 1 型 |
| Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome | 视网膜营养不良、虹膜缺损和粉刺性痤疮综合征 |
| Retinal Lattice Degeneration | 视网膜格子样变性 |
| Retinal Dystrophy with or Without Macular Staphyloma | 伴或不伴黄斑葡萄肿的视网膜营养不良 |
| Retinal Telangiectasia | 视网膜毛细血管扩张 |
| Microvascular Complications of Diabetes 5 | 糖尿病微血管并发症 5 型 |
| Progressive Retinal Dystrophy Due to Retinol Transport Defect | 视黄醇转运缺陷导致的进行性视网膜营养不良 |
| Cone-Rod Dystrophy 16 | 视锥-视杆细胞营养不良16 |
| Retinal Macular Dystrophy | 视网膜黄斑营养不良 |
| Neurodegeneration with Brain Iron Accumulation 1 | 伴脑铁沉积的神经变性 1 |
| Reticular Dystrophy of Retinal Pigment Epithelium | 视网膜色素上皮网状营养不良 |
| Syndromic Inherited Retinal Disorder | 综合征性遗传性视网膜疾病 |
| Retinal Dystrophy with or Without Extraocular Anomalies | 伴或不伴眼外畸形的视网膜营养不良 |
| Cone-Rod Dystrophy 15 | 视锥-视杆细胞营养不良 15 |
| Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole | 后极部网状色素性视网膜营养不良 |
| Leber Plus Disease | Leber 综合征 |
| Retinal Aplasia | 视网膜发育不全 |
| Rhyns Syndrome | Rhyns 综合征 |
| Macular Degeneration | 黄斑变性 |
| Isolated Retinal Racemose Hemangioma | 孤立性视网膜蔓状血管瘤 |
| Combined Hamartoma of the Retina and Retinal Pigment Epithelium | 视网膜和视网膜色素上皮复合错构瘤 |
| Retinal Ciliopathy | 视网膜纤毛病变 |
| Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | Leber 先天性黑蒙/早发性重度视网膜营养不良 |
| Fundus Albipunctatus | 白点状眼底 |
| Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | Rpe65 相关 Leber 先天性黑蒙/早发性重度视网膜营养不良 |
| Leber Congenital Amaurosis 14 | Leber先天性黑蒙 14 |
| Syndromic Rod-Cone Dystrophy | 综合征性视杆-视锥细胞营养不良 |
| Usher Syndrome, Type I | Usher 综合征，I 型 |
| Rare Retinal Disorder | 罕见视网膜疾病 |
| Leber Congenital Amaurosis 13 | Leber 先天性黑蒙 13 |
| Senior-Loken Syndrome 1 | Senior-Loken 综合征 1 |
| Neuroretinitis | 神经视网膜炎 |
| Cone-Rod Dystrophy 6 | 视锥-视杆细胞营养不良 6 |
| Vitreoretinopathy, Neovascular Inflammatory | 新生血管性炎症性玻璃体视网膜病变 |
| Macular Dystrophy, Dominant Cystoid | 显性囊样黄斑营养不良 |
| Coats Disease | Coats 病 |
| Leber Congenital Amaurosis 4 | Leber 先天性黑蒙 4 |
| Macular Dystrophy, Patterned, 1 | 图案性黄斑营养不良 1 |
| Myopia | 近视 |
| Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a | 挛缩、翼状胬肉和脊柱腕跗关节融合综合征 1a |
| Bile Acid Synthesis Defect, Congenital, 4 | 先天性胆汁酸合成缺陷 4 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | 持续性增生性原发性玻璃体，常染色体隐性遗传 |
| Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly | 短肋胸椎发育不良 9（伴或不伴多指畸形） |
| Spastic Paraplegia 15, Autosomal Recessive | 痉挛性截瘫 15（常染色体遗传）隐性遗传 |
| Eye Disease | 眼病 |
| Orofaciodigital Syndrome Ix | 口面指综合征 IX |
| Eales Disease | 伊尔斯病 |
| Cone-Rod Dystrophy 1 | 1 型视锥-视杆细胞营养不良症 |
| Retinoblastoma | 视网膜母细胞瘤 |
| Leber Congenital Amaurosis 3 | 莱伯先天性黑朦 3 |
| Intraocular Pressure Quantitative Trait Locus | 眼压定量特征位点综合征 |
| Cohen Syndrome | 科恩综合征 |
| Cone Dystrophy | 视锥细胞营养不良 |
| Macular Dystrophy, Patterned, 3 | 3 型图案性黄斑营养不良 |
| Uveitis | 葡萄膜炎 |
| Vitreoretinopathy | 玻璃体视网膜病变 |
| Persistent Hyperplastic Primary Vitreous | 持续性增生性原发性玻璃体 |
| Cone-Rod Dystrophy 7 | 7 型视锥-视杆细胞营养不良症 |
| Kuhnt-Junius Degeneration | 库恩特-尤尼乌斯变性 |
| Cataract | 白内障 |
| Cone-Rod Dystrophy 9 | 9 型视锥-视杆细胞营养不良症 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive | 常染色体隐性中央周围色素性视网膜病变 |
| Chromosome Xp11.3 Deletion Syndrome | Xp11.3 染色体缺失综合征 |
| Microcephaly with or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development | 伴或不伴脉络膜视网膜病变、淋巴水肿或智力发育受损的小头畸形 |
| Night Blindness | 夜盲症 |
| Knobloch Syndrome 1 | 1 型诺布洛赫综合征 |
| Macular Holes | 黄斑裂孔 |
| Optic Nerve Disease | 视神经疾病 |
| Usher Syndrome, Type Iia | Usher综合征，IIa型 |
| Retinopathy of Prematurity | 早产儿视网膜病变 |
| Microvascular Complications of Diabetes 1 | 1型糖尿病微血管并发症 |
| Walker-Warburg Syndrome | Walker-Warburg综合征 |
| Neuronal Ceroid Lipofuscinosis | 神经元蜡样脂褐质沉积症 |
| Spinocerebellar Ataxia 7 | 脊髓小脑共济失调7型 |
| Microvascular Complications of Diabetes 2 | 2型糖尿病微血管并发症 |
| Photosensitive Occipital Lobe Epilepsy | 光敏性枕叶癫痫 |
| Chorioretinal Scar | 脉络膜视网膜瘢痕 |
| 3-Methylglutaconic Aciduria, Type Iii | 3-甲基戊二酸尿症，III型 |
| Familial Drusen | 家族性糖尿病 |
| Muscular Dystrophy-Dystroglycanopathy , Type a, 1 | 肌营养不良症-肌营养不良蛋白病，a型，1型 |
| Progressive Cone Dystrophy | 进行性视锥细胞营养不良 |
| Diabetic Macular Edema | 糖尿病性黄斑水肿 |
| Knobloch Syndrome | 诺布洛赫综合征 |
| Leber Congenital Amaurosis 1 | 莱伯先天性黑朦1型 |
| Open-Angle Glaucoma | 开角型青光眼 |
| Vasculitis | 血管炎 |
| Refractive Error | 屈光不正 |
| Cone-Rod Dystrophy 21 | 视锥-视杆细胞营养不良2型 |
| Vascular Disease | 血管疾病 |
| Glaucoma, Primary Open Angle | 原发性开角型青光眼 |
| Lowry-Wood Syndrome | 劳瑞-伍德综合征 |
| Pattern Dystrophy | 视锥细胞营养不良 |
| Stargardt Macular Degeneration | 斯塔加特黄斑变性 |
| Bardet-Biedl Syndrome | 巴德-比德尔综合征 |
| Choroideremia | 脉络膜视网膜病变 |
| Anterior Uveitis | 前葡萄膜炎 |
| Neuropathy | 神经病变 |
| Bardet-Biedl Syndrome 1 | 巴德-比德尔综合征1型 |
| Posterior Uveitis | 后葡萄膜炎 |
| Scotoma | 暗点 |
| Acquired Immunodeficiency Syndrome | 取得性免疫缺陷综合征 |
| Central Serous Chorioretinopathy | 中心性浆液性脉络膜视网膜病变 |
| Preretinal Fibrosis | 视网膜前纤维化 |
| Retinoschisis | 视网膜劈裂 |
| Susac Syndrome | 苏萨克综合征 |
| Cone Dystrophy 3 | 视锥细胞营养不良3 |
| Vasoproliferative Tumor of the Retina | 视网膜血管增生性肿瘤 |
| Ocular Hypertension | 高眼压 |
| Neuritis | 神经炎 |
| Usher Syndrome Type 2 | Usher综合征2型 |
| Optic Neuritis | 视神经炎 |
| Vitreous Detachment | 玻璃体脱离 |
| Oliver-Mcfarlane Syndrome | Oliver-Mcfarlane综合征 |
| Cockayne Syndrome | Cockayne综合征 |
| Endophthalmitis | 眼内炎 |
| Telangiectasis | 毛细血管扩张 |
| Ischemia | 缺血 |
| Pathologic Nystagmus | 病理性眼球震颤 |
| Retinoschisis 1, X-Linked, Juvenile | X连锁青少年型视网膜劈裂症1型 |
| Turner Syndrome | Turner综合征 |
| Urticaria | 荨麻疹 |
| Neovascular Glaucoma | 新生血管性青光眼 |
| Night Blindness, Congenital Stationary, Type 1a | 先天性静止性夜盲症1a型 |
| Leber Hereditary Optic Neuropathy, Modifier of | Leber遗传性视神经病变（修饰型） |
| Immune Deficiency Disease | 免疫缺陷病 |
| Sensorineural Hearing Loss | 感音神经性听力损失 |
| Primary Ciliary Dyskinesia | 原发性纤毛运动障碍 |
| Diabetes Mellitus | 糖尿病 |
| Nonarteritic Anterior Ischemic Optic Neuropathy | 非动脉炎性前部缺血性视神经病变 |
| Nephronophthisis | 肾痨 |
| Bietti Crystalline Corneoretinal Dystrophy | Bietti晶体性角视网膜营养不良症 |
| Macular Dystrophy, Vitelliform, 2 | 黄斑卵黄状营养不良症 2 |
| Joubert Syndrome 1 | Joubert 综合征 1 |
| Strabismus | 斜视 |
| Congenital Stationary Night Blindness | 先天性静止性夜盲症 |
| Achromatopsia | 全色盲 |
| Exudative Vitreoretinopathy | 渗出性玻璃体视网膜病变 |
| Amblyopia | 弱视 |
| Goldmann-Favre Syndrome | Goldmann-Favre 综合征 |
| Von Hippel-Lindau Syndrome | Von Hippel-Lindau 综合征 |
| Toxoplasmosis | 弓形虫病 |
| Hyperglycemia | 高血糖症 |
| Microphthalmia | 小眼畸形 |
| Enhanced S-Cone Syndrome | 增强型 S 锥体综合征 |
| Leber Congenital Amaurosis 2 | Leber 先天性黑蒙症 2 |
| Type 1 Diabetes Mellitus | 1 型糖尿病 |
| Herpes Zoster | 带状疱疹 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies | 宫内生长迟缓、干骺端发育不良、先天性肾上腺发育不全和生殖器畸形 |
| Primary Angle-Closure Glaucoma | 原发性闭角型青光眼 |
| Ciliopathy | 睫状体病变 |
| Coloboma of Macula | 黄斑缺损 |
| Farsightedness | 远视 |
| Vitelliform Macular Dystrophy | 卵黄状黄斑营养不良症 |
| Glaucoma 1, Open Angle, F | 1 型开角型青光眼 |
| Hypertension, Essential | 原发性高血压 |
| Alzheimer's Disease | 阿尔茨海默病疾病 |
| Chorioretinitis | 脉络膜视网膜炎 |
| Exudative Vitreoretinopathy 1 | 渗出性玻璃体视网膜病变 1 |
| Hemangioma | 血管瘤 |
| Chickenpox | 水痘 |
| Leber Congenital Amaurosis 8 | 莱伯氏先天性黑朦 8 |
| Multiple Sclerosis | 多发性硬化症 |
| Posttransplant Acute Limbic Encephalitis | 移植后急性边缘叶脑炎 |
| Glaucoma, Normal Tension | 正常眼压性青光眼 |
| Refsum Disease, Classic | 经典型雷夫苏姆病 |
| Choroidal Dystrophy, Central Areolar, 1 | 中央乳晕脉络膜营养不良 1 |
| Hypertension | 高血压 |
| Bestrophinopathy, Autosomal Recessive | 常染色体隐性遗传性视网膜萎缩蛋白病 |
| Hypertensive Retinopathy | 高血压性视网膜病变 |
| Usher Syndrome, Type Iiia | Usher 综合征，IIIa 型 |
| Tatton-Brown-Rahman Syndrome | Tatton-Brown-Rahman 综合征 |
| Panuveitis | 全葡萄膜炎 |
| Hereditary Optic Neuropathy | 遗传性视神经病变 |
| Adult Syndrome | 成人综合征 |
| Usher Syndrome, Type Ic | Usher 综合征，Ic 型 |
| Fanconi Anemia, Complementation Group E | 范康尼贫血，E 型互补 |
| Parkinson's Disease | 帕金森病 |
| Astigmatism | 散光 |
| Macular Degeneration, Age-Related, 1 | 老年性黄斑变性 1 |
| Optic Disk Drusen | 视盘玻璃膜疣 |
| Polydactyly | 多指畸形 |
| Tuberous Sclerosis 1 | 结节性硬化症1 |
| Cerebrovascular Disease | 脑血管疾病 |
| Background Diabetic Retinopathy | 背景：糖尿病视网膜病变 |
| Kearns-Sayre Syndrome | Kearns-Sayre综合征 |
| Papilledema | 视乳头水肿 |
| Albinism | 白化病 |
| Ceroid Lipofuscinosis, Neuronal, 3 | 神经元性蜡样脂褐质沉积症 3 |
| Tuberous Sclerosis 2 | 结节性硬化症 2 |
| Amyloidosis | 淀粉样变性 |
| Juvenile Nephronophthisis | 青少年性肾痨 |
| Vogt-Koyanagi-Harada Disease | Vogt-小柳-原田病 |
| Optic Atrophy 1 | 视神经萎缩 1 |
| Type 2 Diabetes Mellitus | 2型糖尿病 |
| Stickler Syndrome | Stickler综合征 |
| Reading Disorder | 阅读障碍 |
| X-Linked Congenital Retinoschisis | X连锁先天性视网膜劈裂 |
| Melanoma | 黑色素瘤 |
| Telangiectasia, Impaired Intellectual Development, Microcephaly, Metaphyseal Dysplasia, Eye Abnormalities, and Short Stature | 毛细血管扩张症、智力发育障碍、小头畸形、干骺端发育不良、眼部异常和身材矮小 |
| Trichohepatoenteric Syndrome 1 | 毛肝肠综合征 1 |
| Chronic Kidney Disease | 慢性肾脏病 |
| Migraine with or Without Aura 1 | 有或无先兆的偏头痛 1 |
| Microcephaly | 小头畸形 |
| Norrie Disease | Norrie病 |
| Nanophthalmos | 小眼病 |
| Sickle Cell Disease | 镰状细胞病 |
| Tuberous Sclerosis | 结节性硬化症 |
| Abetalipoproteinemia | 无β脂蛋白血症 |
| Rapidly Involuting Congenital Hemangioma | 快速消退性先天性血管瘤 |
| Stroke, Ischemic | 缺血性中风 |
| Connective Tissue Disease | 结缔组织病 |
| Toxic Encephalopathy | 中毒性脑病 |
| Cancer-Associated Retinopathy | 癌症相关视网膜病变 |
| Choroiditis | 脉络膜炎 |
| Kidney Disease | 肾脏疾病 |
| Dementia | 痴呆 |
| Intermediate Uveitis | 中间葡萄膜炎 |
| Systemic Lupus Erythematosus | 系统性红斑狼疮 |
| Muscular Dystrophy | 肌营养不良症 |
| Ataxia with Vitamin E Deficiency | 维生素E缺乏症伴共济失调 |
| Gyrate Atrophy of Choroid and Retina | 脉络膜和视网膜回状萎缩 |
| Neurofibromatosis | 神经纤维瘤病 |
| Usher Syndrome, Type Id | Usher综合征，Id型 |
| Mitochondrial Disease | 线粒体疾病 |
| Polyneuropathy | 多发性神经病 |
| Macular Dystrophy, Vitelliform, 3 | 黄斑营养不良，卵黄状，3型 |
| End Stage Renal Disease | 终末期肾病 |
| Mild Cognitive Impairment | 轻度认知障碍 |
| Abdominal Obesity-Metabolic Syndrome 1 | 腹部肥胖-代谢综合征1 |
| Helix Syndrome | 螺旋综合征 |
| Myopathy | 肌病 |
| Pseudoxanthoma Elasticum | 弹性纤维假黄瘤 |
| Peripheral Nervous System Disease | 周围神经系统疾病 |
| Sarcoidosis 1 | 结节病1 |
| Alstrom Syndrome | Alstrom综合征 |
| Primary Pulmonary Tuberculosis | 原发性肺结核 |
| Autoimmune Uveitis | 自身免疫性葡萄膜炎 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 | 额颞叶痴呆和/或肌萎缩侧索硬化症 7 |
| Autoimmune Disease | 自身免疫性疾病 |
| Keratoconus | 圆锥角膜 |
| Sarcoidosis 2 | 结节病 2 |
| Usher Syndrome, Type if | Usher 综合征，1 型 |
| Melanoma, Uveal | 葡萄膜黑色素瘤 |
| Syphilis | 梅毒 |
| Lipid Metabolism Disorder | 脂质代谢紊乱 |
| Pigmented Paravenous Chorioretinal Atrophy | 色素性静脉旁脉络膜视网膜萎缩 |
| Photoparoxysmal Response 1 | 光阵发性反应 1 |
| Hypogonadism | 性腺功能低下 |
| Protein-Deficiency Anemia | 蛋白质缺乏性贫血 |
| Usher Syndrome, Type Iic | Usher 综合征，1ic 型 |
| Cone-Rod Dystrophy 3 | 视锥-视杆细胞营养不良 3 |
| Pigmented Paravenous Retinochoroidal Atrophy | 色素性静脉旁视网膜脉络膜萎缩 |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl 综合征 2 |
| Parkinson Disease, Late-Onset | 晚发型帕金森病 |
| Keratitis | 角膜炎 |
| Cycloplegia | 睫状肌麻痹 |
| Aging | 衰老 |
| Meckel Syndrome, Type 1 | 梅克尔综合征，1 型 |
| Pre-Eclampsia | 先兆子痫 |
| Acute Promyelocytic Leukemia | 急性早幼粒细胞白血病白血病 |
| Iron Metabolism Disease | 铁代谢障碍 |
| Optic Papillitis | 视乳头炎 |
| Hypokalemia | 低钾血症 |
| Autosomal Dominant Cerebellar Ataxia | 常染色体显性遗传小脑性共济失调 |
| Cystic Kidney Disease | 囊性肾病 |
| Conjunctivitis | 结膜炎 |
| Trisomy X | X三体综合征 |
| Glaucoma, Primary Closed-Angle | 原发性闭角型青光眼 |
| Marfan Syndrome | 马凡氏综合征 |
| Oguchi Disease | 大口病 |
| Sjogren-Larsson Syndrome | 干燥-拉尔森综合征 |
| Keratopathy | 角膜病变 |
| Amyotrophic Lateral Sclerosis 1 | 肌萎缩侧索硬化症1 |
| Leber Congenital Amaurosis 7 | 莱伯先天性黑朦7 |
| 47,xyy Syndrome | 47,xyy综合征 |
| Alzheimer Disease, Familial, 1 | 家族性阿尔茨海默病1 |
| Leber Congenital Amaurosis 5 | 莱伯先天性黑朦5 |
| Amed Syndrome, Digenic | 双基因阿米德综合征 |
| Vitreoretinochoroidopathy | 玻璃体视网膜脉络膜病变 |
| Color Blindness | 色盲 |
| Esotropia | 内斜视 |
| Muscular Dystrophy, Duchenne Type | 杜氏肌营养不良症 |
| Neurofibromatosis, Type I | I型神经纤维瘤病 |
| Exfoliation Syndrome | 剥脱性综合征 |
| Acute Zonal Occult Outer Retinopathy | 急性区域性隐匿性外层视网膜病变 |
| Lateral Sclerosis | 侧索硬化症 |
| Degenerative Myopia | 退行性近视 |
| Coronary Artery Anomaly | 冠状动脉畸形 |
| Down Syndrome | 唐氏综合征 |
| Mucopolysaccharidosis-Plus Syndrome | 粘多糖沉积症叠加综合征 |
| Ceroid Lipofuscinosis, Neuronal, 5 | 神经性蜡样脂褐质沉积症 |
| Temporal Arteritis | 颞动脉炎 |
| Behcet Syndrome | 白塞氏综合征 |
| Peroxisome Biogenesis Disorder 1b | 过氧化物酶体生物合成障碍 1b |
| Sorsby Fundus Dystrophy | 索尔斯比眼底营养不良症 |
| Carney Complex Variant | 卡尼复合体变异型 |
| Rubeosis Iridis | 虹膜发红 |
| Dilution, Pigmentary | 色素性淡化 |
| Corneal Edema | 角膜水肿 |
| Stargardt Disease 3 | 斯塔加特病 3 |
| Isolated Ectopia Lentis | 孤立性晶状体异位 |
| Occult Macular Dystrophy | 隐匿性黄斑营养不良 |
| Neuronal Ceroid Lipofuscinoses | 神经元蜡样脂褐质沉积症 |
| Optic Nerve Hypoplasia, Bilateral | 双侧视神经发育不全 |
| Incontinentia Pigmenti | 色素失禁症 |
| Lysosomal Storage Disease | 溶酶体贮积症 |
| Blind Hypotensive Eye | 盲眼低眼压症 |
| Scleritis | 巩膜炎 |
| Bardet-Biedl Syndrome 3 | 巴德-比德尔综合征 3 |
| Leber Congenital Amaurosis 6 | 莱伯先天性黑朦 6 |
| Purpura | 紫癜 |
| Mckusick-Kaufman Syndrome | 麦库西克-考夫曼综合征 |
| Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant | 高胡萝卜素血症和维生素 A 缺乏症，常染色体显性遗传 |
| Birdshot Chorioretinopathy | 鸟枪弹样脉络膜视网膜病变 |
| Bardet-Biedl Syndrome 7 | 巴德-比德尔综合征 7 |
| Cholera | 霍乱 |
| Spondylometaphyseal Dysplasia, Axial | 脊椎干骺端轴性发育不良 |
| Bardet-Biedl Syndrome 10 | Bardet-Biedl综合征10 |
| Leigh Disease | Leigh病 |
| Hydrocephalus | 脑积水 |
| Schizophrenia | 精神分裂症 |
| Intracranial Hypertension | 颅内高压 |
| Nephronophthisis 1 | 肾痨1 |
| Hypothyroidism | 甲状腺功能减退症 |
| Embryonal Rhabdomyosarcoma | 胚胎性横纹肌肉瘤 |
| Cone-Rod Dystrophy 13 | 视锥-视杆细胞营养不良13 |
| Iridocyclitis | 虹膜睫状体炎 |
| Usher Syndrome, Type Ig | Ig型Usher综合征 |
| Thrombophilia Due to Thrombin Defect | 凝血酶缺陷导致的血栓形成倾向 |
| Skin Disease | 皮肤病 |
| Thrombophilia | 血栓形成倾向 |
| Alopecia | 脱发 |
| Systemic Mastocytosis | 系统性肥大细胞增多症 |
| Glaucoma 3, Primary Congenital, a | 原发性先天性青光眼3 |
| Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations | 趾畸形、远眦畸形、肛门生殖器畸形和肾脏畸形 |
| Exotropia | 外斜视 |
| Coloboma of Optic Nerve | 视神经缺损 |
| Vitreoretinal Degeneration | 玻璃体视网膜变性 |
| Huntington Disease | 亨廷顿病 |
| Gastric Antral Vascular Ectasia | 胃窦血管扩张症 |
| Leukemia, Acute Lymphoblastic | 急性淋巴细胞白血病 |
| Viral Infectious Disease | 病毒性传染病 |
| Leigh Syndrome, Nuclear | Leigh综合征核性 |
| Capillary Hemangioma | 毛细血管瘤 |
| Diffuse Idiopathic Skeletal Hyperostosis | 弥漫性特发性骨质增生 |
| Fetal Anticonvulsant Syndrome | 胎儿抗惊厥综合征 |
| Dermatitis | 皮炎 |
| Acne | 痤疮 |
| Nervous System Disease | 神经系统疾病 |
| Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎发育不良1型 |
| Transient Cerebral Ischemia | 短暂性脑缺血 |
| Glioma Susceptibility 1 | 胶质瘤易感性1型 |
| Body Mass Index Quantitative Trait Locus 11 | 体重指数数量性状位点11 |
| Dermatitis, Atopic | 特应性皮炎 |
| Hinman Syndrome | 欣曼综合征 |
| Nonsyndromic Hearing Loss | 非综合征性听力损失 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes | 线粒体肌病、脑病、乳酸性酸中毒和卒中样发作 |
| Rare Genetic Deafness | 罕见遗传性耳聋 |
| Sleep Apnea | 睡眠呼吸暂停 |
| Autosomal Dominant Optic Atrophy | 常染色体显性视神经萎缩 |
| Albinism, Ocular, Type I | 眼白化病，I型 |
| Posterior Column Ataxia | 后柱共济失调 |
| Ciliary Dyskinesia, Primary, 1 | 原发性纤毛运动障碍，1型 |
| Perching Syndrome | 栖息综合征 |
| Pars Planitis | 睫状体扁平部炎 |
| Night Blindness, Congenital Stationary, Type 2a | 夜盲症先天性静止型，2a 型 |
| Intraocular Lymphoma | 眼内淋巴瘤 |
| Leber Congenital Amaurosis 10 | 莱伯氏先天性黑朦 10 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 | 白癜风相关多种自身免疫性疾病易感性 6 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | 白癜风相关多种自身免疫性疾病易感性 1 |
| Attention Deficit-Hyperactivity Disorder | 注意力缺陷多动障碍 |
| Polycystic Kidney Disease | 多囊肾病 |
| Chronic Progressive External Ophthalmoplegia | 慢性进行性眼外肌麻痹 |
| Adenoma | 腺瘤 |
| B-Lymphoblastic Leukemia/lymphoma | B 淋巴细胞白血病/淋巴瘤 |
| Iritis | 虹膜炎 |
| Twin-Reversed Arterial Perfusion Sequence | 双胎逆向动脉灌注序列 |
| Intracranial Hypertension, Idiopathic | 特发性颅内高压 |
| Hodgkin's Lymphoma | 霍奇金淋巴瘤 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 2 | 先天性静止型夜盲症，常染色体显性遗传 2 |
| Bipolar Disorder | 双相情感障碍 |
| Scleroderma, Familial Progressive | 硬皮病，家族性进行性 |
| Rhabdomyosarcoma 2 | 横纹肌肉瘤 2 |
| Mevalonic Aciduria | 甲羟戊酸尿症 |
| Cardiovascular System Disease | 心血管系统疾病 |
| Angioid Streaks | 血管样条纹 |
| Systemic Scleroderma | 系统性硬皮病 |
| Factor Viii Deficiency | Ⅷ因子缺乏症 |
| Orofaciodigital Syndrome I | 口面指（趾）综合征I |
| Nephronophthisis 4 | 肾痨4 |
| Bardet-Biedl Syndrome 8 | 巴德-比德尔综合征8 |
| Intellectual Disability and Myopathy Syndrome | 智力障碍和肌病综合征 |
| Ocular Motor Apraxia | 眼球运动失用症 |
| Leber Congenital Amaurosis 15 | 莱伯先天性黑朦15 |
| Vitreous Syneresis | 玻璃体收缩 |
| Body Mass Index Quantitative Trait Locus 10 | 体重指数数量性状位点10 |
| Prediabetes Syndrome | 糖尿病前期综合征 |
| Familial Adenomatous Polyposis | 家族性腺瘤性息肉病 |
| Corneal Disease | 角膜疾病 |
| Hypoglycemia | 低血糖症 |
| Diabetes and Deafness, Maternally Inherited | 母系遗传性糖尿病和耳聋 |
| Oculodentodigital Dysplasia | 眼齿指（趾）发育不良 |
| Thalassemia | 地中海贫血 |
| Laurence-Moon Syndrome | 劳伦斯-穆恩综合征 |
| Papillomatosis, Confluent and Reticulated | 融合性网状乳头状瘤病 |
| Sympathetic Ophthalmia | 交感性眼炎 |
| Body Mass Index Quantitative Trait Locus 7 | 体重指数数量性状位点7 |
| Body Mass Index Quantitative Trait Locus 9 | 体重指数数量性状位点9 |
| Body Mass Index Quantitative Trait Locus 4 | 体重指数数量性状位点4 |
| Body Mass Index Quantitative Trait Locus 8 | 体质指数数量性状位点 8 |
| Body Mass Index Quantitative Trait Locus 14 | 体质指数数量性状位点 14 |
| Body Mass Index Quantitative Trait Locus 12 | 体质指数数量性状位点 12 |
| Body Mass Index Quantitative Trait Locus 19 | 体质指数数量性状位点 19 |
| Body Mass Index Quantitative Trait Locus 18 | 体质指数数量性状位点 18 |
| Body Mass Index Quantitative Trait Locus 20 | 体质指数数量性状位点 20 |
| Asphyxiating Thoracic Dystrophy | 窒息性胸廓营养不良症 |
| Aniseikonia | 像不等视 |
| Hyperlipoproteinemia, Type Iii | III 型高脂蛋白血症 |
| Sturge-Weber Syndrome | Sturge-Weber 综合征 |
| Heart Disease | 心脏病 |
| Alport Syndrome | Alport 综合征 |
| Anisometropia | 屈光参差 |
| Bardet-Biedl Syndrome 4 | Bardet-Biedl 综合征 4 |
| Wagner Vitreoretinopathy | Wagner 玻璃体视网膜病变 |
| Ceroid Lipofuscinosis, Neuronal, 1 | 神经元型蜡样脂褐质沉积症 1 |
| Usher Syndrome, Type Iid | Usher 综合征 21d 型 |
| Osteochondrodysplasia | 骨软骨发育不良 |
| Optic Disc Pit | 视盘凹陷 |
| Pertussis | 百日咳 |
| Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 | 常染色体显性脑动脉病，伴皮质下梗死和1型白质脑病 |
| Oculocutaneous Albinism | 眼皮肤白化病 |
| Brachydactyly | 短指症 |
| Pheochromocytoma | 嗜铬细胞瘤 |
| Pituitary Adenoma | 垂体腺瘤 |
| Dystonia | 肌张力障碍 |
| Depressive Disorder | 抑郁症 |
| Autism Spectrum Disorder | 自闭症谱系障碍 |
| Visceral Heterotaxy 5 | 内脏异位症5 |
| Cone-Rod Dystrophy 10 | 视锥-视杆细胞营养不良症10 |
| Ceroid Lipofuscinosis, Neuronal, 2 | 神经元蜡样脂褐质沉积症2 |
| Pik3ca-Related Overgrowth Spectrum | Pik3ca相关过度生长谱 |
| Pik3ca-Related Overgrowth Syndrome | Pik3ca相关过度生长综合征 |
| Facioscapulohumeral Muscular Dystrophy 1 | 面肩肱型肌营养不良症1 |
| Myeloid Leukemia | 髓系白血病 |
| Chronic Bilirubin Encephalopathy | 慢性胆红素脑病 |
| Ocular Dominance | 眼优势畸形 |
| Polycythemia | 红细胞增多症 |
| Cardiomyopathy, Familial Hypertrophic, 1 | 家族性肥厚性心肌病1 |
| Leber Congenital Amaurosis 9 | 莱伯氏先天性黑朦9 |
| Ring Chromosome 1 | 环状染色体1 |
| Iga Vasculitis | Iga血管炎 |
| Epilepsy | 癫痫 |
| Malaria | 疟疾 |
| Homocystinuria | 同型胱氨酸尿症 |
| Cone-Rod Dystrophy, X-Linked, 1 | X连锁视锥杆营养不良症1 |
| Leukemia, Chronic Myeloid | 慢性粒细胞白血病 |
| Chronic Myelogenous Leukemia, Bcr-Abl1 Positive | Bcr-Abl1阳性慢性粒细胞白血病 |
| Sensory Peripheral Neuropathy | 感觉性周围神经病变 |
| Graves Ophthalmopathy | 格雷夫斯眼病 |
| Bardet-Biedl Syndrome 6 | 巴德-比德尔综合征6 |
| Major Depressive Disorder | 重度抑郁症 |
| Congenital Disorder of Glycosylation, Type Ia | 先天性糖基化障碍Ia型 |
| Parkinsonism | 帕金森病 |
| Polydactyly, Postaxial, Type A1 | A1型轴后性多指畸形 |
| Weber Syndrome | 韦伯综合征 |
| Visual Impairment and Progressive Phthisis Bulbi | 视力障碍和进行性眼结核 |
| Allergic Disease | 过敏性疾病 |
| Ataxia-Telangiectasia | 共济失调-毛细血管扩张症 |
| B-Cell Lymphoma | B细胞淋巴瘤 |
| Movement Disease | 运动疾病 |
| Central Nervous System Disease | 中枢神经系统疾病 |
| Mcleod Syndrome | 麦克劳德综合征 |
| Spastic Paraplegia, Ataxia, and Impaired Intellectual Development | 痉挛性截瘫、共济失调和智力发育障碍 |
| Mitochondrial Myopathy | 线粒体肌病 |
| Chronic Granulomatous Disease | 慢性肉芽肿性疾病 |
| Hereditary Spastic Paraplegia | 遗传性痉挛性截瘫 |
| Myeloperoxidase Deficiency | 髓过氧化物酶缺乏症 |
| Melanoma Associated Retinopathy | 黑色素瘤相关视网膜病变 |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl 综合征 5 |
| Heimler Syndrome 1 | Heimler 综合征 1 |
| Rubella | 风疹 |
| Leukemia, Acute Myeloid | 急性髓系白血病 |
| Polyarteritis Nodosa | 结节性多动脉炎 |
| Ceroid Lipofuscinosis, Neuronal, 6a | 神经元蜡样脂褐质沉积症 6a |
| Glomerulonephritis | 肾小球肾炎 |
| Aceruloplasminemia | 铜蓝蛋白缺乏症 |
| Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay | 伴有 B 细胞免疫缺陷、周期性发热和发育迟缓的铁粒幼细胞性贫血 |
| Chorioretinal Atrophy, Progressive Bifocal | 进行性双焦脉络膜视网膜萎缩 |
| Fryns Microphthalmia Syndrome | Fryns 小眼畸形综合征 |
| Friedreich Ataxia | Friedreich 共济失调 |
| Insulin-Like Growth Factor I | 胰岛素样生长因子 I |
| Lactic Acidosis | 乳酸性酸中毒 |
| Arteritic Anterior Ischemic Optic Neuropathy | 动脉炎性前部缺血性视神经病变 |
| Scoliosis | 脊柱侧弯 |
| Learning Disability | 学习障碍 |
| Aniridia | 无虹膜 |
| Paraplegia | 截瘫 |
| Bardet-Biedl Syndrome 12 | Bardet-Biedl 综合征 12 |
| Breast Cancer | 乳腺癌 |
| West Syndrome | West 综合征 |
| Vitreoretinal Degeneration, Snowflake Type | 雪花状玻璃体视网膜变性类型 |
| Sjogren Syndrome | 干燥综合征 |
| Mitochondrial Encephalomyopathy | 线粒体脑肌病 |
| Skin Melanoma | 皮肤黑色素瘤 |
| Eclampsia | 子痫 |
| Necrotizing Vasculitis | 坏死性血管炎 |
| Corneal Dystrophy | 角膜营养不良 |
| Blue Cone Monochromacy | 蓝锥单色性视神经病 |
| Cone-Rod Dystrophy 12 | 视锥-视杆细胞营养不良12型 |
| Lung Cancer | 肺癌 |
| Polykaryocytosis Inducer | 多核细胞增多症诱导物 |
| Mucopolysaccharidosis, Type Iiic | 粘多糖贮积症，II型 |
| Multiple Evanescent White Dot Syndrome | 多发性一过性白点综合征 |
| Fuchs' Heterochromic Uveitis | 福克斯异色性葡萄膜炎 |
| Severe Combined Immunodeficiency | 严重联合免疫缺陷 |
| Acute Closed-Angle Glaucoma | 急性闭角型青光眼 |
| Histoplasmosis | 组织胞浆菌病 |
| Frontotemporal Dementia 1 | 额颞叶痴呆1型 |
| Congenital Nystagmus | 先天性眼球震颤 |
| Dry Eye Syndrome | 干眼综合征 |
| Leukemia, Acute Lymphoblastic 3 | 急性淋巴细胞白血病3型 |
| Wagner Disease | 瓦格纳病 |
| Proteasome-Associated Autoinflammatory Syndrome 1 | 蛋白酶体相关自身炎症综合征1型 |
| X-Linked Congenital Stationary Night Blindness | X连锁先天性静止性夜盲症 |
| Coloboma of Iris | 虹膜缺损 |
| Night Blindness, Congenital Stationary, Type1i | 夜盲症先天性静止型，1i 型 |
| Deafness, Autosomal Recessive 2 | 耳聋，常染色体隐性遗传 2 |
| Lens Subluxation | 晶状体半脱位 |
| Juvenile Glaucoma | 青少年青光眼 |
| Achromatopsia 2 | 全色盲 2 |
| Hypertrophic Cardiomyopathy | 肥厚性心肌病 |
| Leptin Deficiency or Dysfunction | 瘦素缺乏或功能障碍 |
| Exudative Vitreoretinopathy 2, X-Linked | 渗出性玻璃体视网膜病变 2，X 连锁 |
| Atrial Standstill 1 | 心房停顿 1 |
| Leigh Syndrome, Mitochondrial | Leigh 综合征，线粒体型 |
| Papillorenal Syndrome | 乳头肾综合征 |
| Familial Hyperlipidemia | 家族性高脂血症 |
| Nephrotic Syndrome | 肾病综合征 |
| Toxocariasis | 弓蛔虫病 |
| Acute Posterior Multifocal Placoid Pigment Epitheliopathy | 急性后部多灶性斑块状色素上皮病 |
| Leber Congenital Amaurosis 11 | Leber 先天性黑朦 11 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 | 伴有线粒体 DNA 缺失的进行性外眼肌麻痹，常染色体显性遗传 1 |
| Fabry Disease | 法布里病 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly | 多核神经元、羊水缺乏、肾发育不良、小脑发育不全和脑积水畸形 |
| Body Mass Index Quantitative Trait Locus 1 | 体重指数数量性状位点 1 |
| Leukocoria | 白瞳症 |
| Anterior Segment Dysgenesis | 眼前节发育不全 |
| Cataract-Glaucoma Syndrome | 白内障-青光眼综合征 |
| Autonomic Neuropathy | 自主神经病变 |
| Ocular Tuberculosis | 眼结核病 |
| Charge Syndrome | Charge 综合征 |
| Leukodystrophy | 白质营养不良 |
| Ocular Pigment Dispersion with or Without Glaucoma | 伴或不伴青光眼的眼色素沉着症 |
| Respiratory Failure | 呼吸衰竭 |
| Senile Cataract | 老年性白内障 |
| Maturity-Onset Diabetes of the Young, Type 1 | 1 型成年型糖尿病 |
| Androgen Insensitivity Syndrome | 雄激素不敏感综合征 |
| Spinocerebellar Ataxia 2 | 2 型脊髓小脑性共济失调 |
| Basal Laminar Drusen | 基底层视网膜黄斑硬化症 |
| Ring Chromosome 2 | 2 型环状染色体 |
| Autosomal Dominant Polycystic Kidney Disease | 常染色体显性多囊肾病 |
| Aplastic Anemia | 再生障碍性贫血 |
| Papillon-Lefevre Syndrome | Papillon-Lefevre 综合征 |
| Zellweger Spectrum Disorder | Zellweger 谱系障碍 |
| Dilated Cardiomyopathy | 扩张型心肌病 |
| Stickler Syndrome, Type I | I 型斯蒂克勒综合征 |
| Vascular Dementia | 血管性痴呆 |
| Teratoma | 畸胎瘤 |
| Mucopolysaccharidosis Iii | III 型粘多糖贮积症 |
| Arima Syndrome | Arima 综合征 |
| Myeloma, Multiple | 骨髓瘤多发性 |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | 先天性偏侧发育不良伴鱼鳞病样红皮病和肢体缺陷 |
| Measles | 麻疹 |
| Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly | 短肋胸廓发育不良（5型，伴或不伴多指畸形） |
| Keratoconjunctivitis | 角膜结膜炎 |
| Joubert Syndrome 9 | Joubert综合征（9型） |
| Aland Island Eye Disease | 奥兰岛眼病 |
| Autism | 自闭症 |
| Macular Degeneration, Age-Related, 2 | 老年性黄斑变性（2型） |
| Hyperinsulinism | 高胰岛素血症 |
| Senior-Loken Syndrome 4 | 老年-洛肯综合征（4型） |
| Early Myoclonic Encephalopathy | 早期肌阵挛性脑病 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 | 先天性静止性夜盲症（常染色体显性遗传） |
| Cranioectodermal Dysplasia | 颅外胚层发育不良 |
| Muscular Atrophy | 肌肉萎缩 |
| Ichthyosis | 鱼鳞病 |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl综合征（9型） |
| Hypertelorism | 眼距过宽 |
| Anxiety | 焦虑症 |
| Dyskeratosis Congenita | 先天性角化不良 |
| Butterfly-Shaped Pigment Dystrophy | 蝴蝶状色素营养不良 |
| Overgrowth Syndrome | 过度生长综合征 |
| Deafness, Autosomal Recessive 12 | 常染色体隐性耳聋12 |
| Myeloproliferative Neoplasm | 骨髓增生性肿瘤 |
| Pneumocystosis | 肺囊虫病 |
| Hypereosinophilic Syndrome | 嗜酸细胞增多症 |
| Diarrhea | 腹泻 |
| Bronchiectasis | 支气管扩张 |
| Muscle-Eye-Brain Disease | 肌-眼-脑疾病 |
| Impotence | 阳痿 |
| Newfoundland Rod-Cone Dystrophy | 纽芬兰杆-杆营养不良症 |
| Acute Kidney Failure | 急性肾衰竭 |
| Wolfram Syndrome 1 | 沃尔夫勒姆综合征1 |
| Colorectal Cancer | 结直肠癌 |
| Charcot-Marie-Tooth Disease | 夏科-马里-图斯病 |
| Cone-Rod Dystrophy, X-Linked, 3 | X连锁锥-杆营养不良症3 |
| Acute Retrobulbar Neuritis | 急性球后神经炎 |
| Myocardial Infarction | 心肌梗死 |
| Infertility | 不孕症 |
| Cleft Palate, Isolated | 孤立性腭裂 |
| Cone-Rod Dystrophy 5 | 锥-杆营养不良症5 |
| Hereditary Sensory Neuropathy | 遗传性感觉神经病 |
| Neutropenia | 中性粒细胞减少症 |
| Meningioma | 脑膜瘤 |
| Wilson Disease | 威尔逊病 |
| Secondary Progressive Multiple Sclerosis | 继发性进行性多发性硬化症 |
| Hemophilia | 血友病 |
| Complete Androgen Insensitivity Syndrome | 完全性雄激素不敏感综合征 |
| Malignant Hypertension | 恶性高血压 |
| Thrombocytopenia | 血小板减少症 |
| Cellulitis | 蜂窝织炎 |
| Traumatic Brain Injury | 脑外伤损伤 |
| Nutritional Deficiency Disease | 营养缺乏症 |
| Male Infertility | 男性不育症 |
| Ectodermal Dysplasia | 外胚层发育不良 |
| Juvenile Rheumatoid Arthritis | 幼年型类风湿性关节炎 |
| Mucolipidosis | 粘脂沉积症 |
| Infantile Neuronal Ceroid Lipofuscinosis | 婴儿神经元蜡样脂褐质沉积症 |
| Cerebellar Atrophy, Developmental Delay, and Seizures | 小脑萎缩、发育迟缓和癫痫 |
| Congenital Toxoplasmosis | 先天性弓形虫病 |
| Hepatitis C | 丙型肝炎 |
| Peroxisomal Disease | 过氧化物酶体病 |
| Myotonic Dystrophy | 强直性肌营养不良症 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 | 进行性外眼肌麻痹伴线粒体DNA缺失，常染色体隐性遗传1 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 | 进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性遗传4 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 | 进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性遗传2 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 | 进行性外眼肌麻痹伴线粒体DNA缺失，常染色体显性遗传3 |
| Macs Syndrome | Macs综合征 |
| Primary Congenital Glaucoma | 原发性先天性青光眼 |
| Joubert Syndrome 5 | Joubert综合征5 |
| Albinism, Oculocutaneous, Type Ii | 眼皮肤白化病，II型 |
| Agammaglobulinemia, X-Linked | X连锁无丙种球蛋白血症 |
| Primary Hyperaldosteronism | 原发性醛固酮增多症 |
| Congenital Disorder of Glycosylation, Type in | 先天性糖基化障碍，II型 |
| Malignant Choroid Melanoma | 恶性脉络膜黑色素瘤 |
| Scheie Syndrome | Scheie综合征 |
| Syndactyly | 并指畸形 |
| Galactosemia | 半乳糖血症 |
| Hemoglobinopathy | 血红蛋白病 |
| Graves Disease | Graves病 |
| Arthrogryposis, Renal Dysfunction, and Cholestasis 1 | 关节挛缩、肾功能障碍和胆汁淤积症1型 |
| Kaposi Sarcoma | 卡波西肉瘤 |
| Vitamin K Deficiency Bleeding | 维生素K缺乏性出血 |
| Trichohepatoenteric Syndrome | 毛肝肠综合征 |
| Ceroid Lipofuscinosis, Neuronal, 7 | 神经元蜡样脂褐质沉积症7型 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | 长链3-羟酰基辅酶A脱氢酶缺乏症 |
| Craniosynostosis | 颅缝早闭 |
| Myotonic Dystrophy 1 | 肌强直性营养不良症1型 |
| Hydrocephalus, Congenital, 1 | 先天性脑积水1型 |
| Mucopolysaccharidosis, Type Ii | 粘多糖贮积症1型IIi型 |
| Beta-Thalassemia | β-地中海贫血 |
| Usher Syndrome, Type Iv | Usher综合征IV型 |
| Granulomatosis with Polyangiitis | 肉芽肿性多血管炎 |
| Alcohol Use Disorder | 酒精使用障碍 |
| Usher Syndrome, Type Ij | Usher综合征Ij型 |
| Choroidal Osteoma | 脉络膜骨瘤 |
| Rickets | 佝偻病 |
| Polycythemia Vera | 真性红细胞增多症 |
| Mucolipidosis Iii Gamma | 粘脂病III型γ型 |
| Anhidrosis | 无汗症 |
| Stargardt Disease 4 | Stargardt病4型 |
| Severe Covid-19 | 重症新冠肺炎 |
| Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome | 血管炎、自身炎症、免疫缺陷和血液系统缺陷综合征 |
| Orofaciodigital Syndrome | 口面指综合征 |
| Metabolic Dysfunction-Associated Steatotic Liver Disease | 代谢功能障碍相关脂肪性肝病 |
| Neu-Laxova Syndrome 1 | Neu-Laxova综合征1型 |
| Leukemia | 白血病 |
| Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) | 伴有Inv3(p21;q26.2)或T(3;3)(p21;q26.2)的急性髓系白血病 |
| Osteoporosis | 骨质疏松症 |
| Siderosis | 铁质沉着症 |
| Alcohol Dependence | 酒精依赖 |
| Tietz Albinism-Deafness Syndrome | Tietz白化病-耳聋综合征 |
| Lissencephaly | 无脑畸形 |
| Achromatopsia 3 | 全色盲3例 |
| Hepatitis | 肝炎 |
| Glioma | 神经胶质瘤 |
| Acute Leukemia | 急性白血病 |
| Prion Disease | 朊病毒病 |
| Leber Congenital Amaurosis 16 | Leber先天性黑朦16例 |
| Hypobetalipoproteinemia, Familial, 1 | 家族性低β脂蛋白血症1例 |
| Catastrophic Antiphospholipid Syndrome | 灾难性抗磷脂综合征 |
| Dementia, Lewy Body | 路易体痴呆 |
| Hypopituitarism | 垂体功能低下 |
| Immunodeficiency, Common Variable, 10 | 共同变量免疫缺陷10例 |
| Neurofibroma | 神经纤维瘤 |
| Severe Pre-Eclampsia | 重度先兆子痫 |
| Mature Cataract | 成熟性白内障 |
| Meningioma, Familial | 家族性脑膜瘤 |
| Spastic Ataxia | 痉挛性共济失调 |
| Hematologic Cancer | 血液系统癌症 |
| Cerebral Palsy | 脑瘫 |
| Agammaglobulinemia | 无丙种球蛋白血症 |
| Hemolytic-Uremic Syndrome | 溶血性尿毒症综合征 |
| Wolfram Syndrome | Wolfram综合征 |
| Crohn's Disease | 克罗恩病 |
| Glucose Intolerance | 葡萄糖不耐受 |
| Myoclonic Epilepsy Associated with Ragged-Red Fibers | 与破碎红纤维相关的肌阵挛性癫痫 |
| Maternally-Inherited Leigh Syndrome | 母系遗传的Leigh综合征 |
| Cerebral Visual Impairment | 脑视觉损伤 |
| Neuroblastoma | 神经母细胞瘤 |
| Primary Pulmonary Vein Stenosis | 原发性肺静脉狭窄 |
| Corneal Neovascularization | 角膜新生血管 |
| Small Cell Cancer of the Lung | 肺癌 |
| Isolated Macular Dystrophy | 孤立性黄斑营养不良 |
| Graft-Versus-Host Disease | 移植物抗宿主病 |
| Pigmentation Anomaly of the Skin | 皮肤色素沉着异常 |
| Psoriasis 1 | 银屑病1 |
| Liver Disease | 肝病 |
| Central Diabetes Insipidus | 中枢性尿崩症 |
| Oguchi Disease 1 | 大口病1 |
| Pituitary Tumor | 垂体瘤 |
| Gastrointestinal System Disease | 胃肠系统疾病 |
| Diabetes Insipidus | 尿崩症 |
| Multiple Pterygium Syndrome, Escobar Variant | 多发性翼状胬肉综合征（埃斯科巴变异型） |
| Diabetes Mellitus, Ketosis-Prone | 糖尿病（酮症倾向） |
| Presbyopia | 老花眼 |
| Myelodysplastic Syndrome | 骨髓增生异常综合征 |
| Demyelinating Polyneuropathy | 脱髓鞘性多发性神经病 |
| Ceroid Lipofuscinosis, Neuronal, 11 | 蜡样脂褐质沉积症（神经元型） |
| Thrombocytosis | 血小板增多症 |
| Ocular Cancer | 眼癌 |
| Psoriasis 7 | 银屑病7 |
| Psoriasis 2 | 银屑病2 |
| Psoriasis 11 | 银屑病11 |
| Psoriasis 13 | 银屑病13 |
| Vascular Cancer | 血管性癌症 |
| Congestive Heart Failure | 充血性心力衰竭 |
| Serpiginous Choroiditis | 匐行性脉络膜炎 |
| T-Cell Acute Lymphoblastic Leukemia | T细胞急性淋巴细胞白血病 |
| Psychotic Disorder | 精神病性障碍 |
| Hemolytic Uremic Syndrome, Atypical 1 | 非典型溶血性尿毒症综合征1 |
| Muscular Dystrophy-Dystroglycanopathy , Type a, 3 | 肌营养不良症-肌营养不良蛋白病a型3 |
| Spinal Cord Disease | 脊髓疾病 |
| Inherited Cancer-Predisposing Syndrome | 遗传性癌症易感综合征 |
| Neurodegeneration with Brain Iron Accumulation | 伴有脑铁沉积的神经变性 |
| Primary Hyperoxaluria | 原发性高草酸尿症 |
| Auditory Neuropathy and Optic Atrophy | 听觉神经病变和视神经萎缩 |
| Cold-Induced Sweating Syndrome 3 | 冷诱发性出汗综合征3 |
| Choroidal Dystrophy, Central Areolar 2 | 中央乳晕脉络膜营养不良2 |
| Familial Mediterranean Fever | 家族性地中海热 |
| Corneal Dystrophy, Band-Shaped | 带状角膜营养不良 |
| Premature Aging | 过早衰老 |
| Candidiasis | 念珠菌病 |
| Hypogonadotropic Hypogonadism | 促性腺激素性性腺功能减退症 |
| Cerebellar Hypoplasia | 小脑发育不全 |
| Onchocerciasis | 盘尾丝虫病 |
| Hemophilia a | 血友病a |
| Leukemia, Chronic Lymphocytic | 慢性淋巴细胞白血病 |
| Mast Cell Neoplasm | 肥大细胞肿瘤 |
| Orbital Cellulitis | 眼眶蜂窝织炎 |
| Multiple System Atrophy | 多系统萎缩 |
| Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus | 类似黄斑眼底的多灶性营养不良 |
| Boucher-Neuhauser Syndrome | Boucher-Neuhauser综合征 |
| Acute Myeloid Leukemia with Maturation | 伴成熟的急性髓系白血病 |
| Pancytopenia | 全血细胞减少症 |
| Cryopyrin-Associated Periodic Syndrome | 冷热蛋白相关周期性综合征 |
| Night Blindness, Congenital Stationary, Type 1e | 先天性静止性夜盲症，1e型 |
| Congenital Muscular Dystrophy | 先天性肌营养不良症 |
| Meningoencephalitis | 脑膜脑炎 |
| Peroxisome Biogenesis Disorder 1a | 过氧化物酶体生物合成障碍1a |
| Neurodegeneration with Brain Iron Accumulation 2a | 伴脑铁累积的神经退行性疾病2a |
| Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor | 全面发育迟缓、肺囊肿、过度生长和肾母细胞瘤 |
| Chronic Closed-Angle Glaucoma | 慢性闭角型青光眼 |
| Ring Chromosome 3 | 环状染色体3 |
| Steatotic Liver Disease | 脂肪性肝病 |
| Bone Mineral Density Quantitative Trait Locus 15 | 骨矿物质密度数量性状基因座15 |
| Bullous Keratopathy | 大疱性角膜病变 |
| Sleep Disorder | 睡眠障碍 |
| Methylmalonic Acidemia | 甲基丙二酸血症 |
| Gastrointestinal Stromal Tumor | 胃肠道基质肿瘤 |
| Lymphoplasmacytic Lymphoma | 淋巴浆细胞性淋巴瘤 |
| Cranioectodermal Dysplasia 4 | 颅外胚层发育不良4型 |
| Cerebrofacial Arteriovenous Metameric Syndrome | 脑面部动静脉同分异构体综合征 |
| Distal Arthrogryposis | 远端关节弯曲症 |
| Bronchopulmonary Dysplasia | 支气管肺发育不良 |
| Pneumonia | 肺炎 |
| Peters-Plus Syndrome | Peters-Plus综合征 |
| Bone Mineral Density Quantitative Trait Locus 8 | 骨矿物质密度数量性状位点8 |
| Acromegaly | 肢端肥大症 |
| Hypogonadotropic Hypogonadism 7 with or Without Anosmia | 伴或不伴嗅觉丧失的促性腺激素性性腺功能低下7型 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type | 斯特拉德威克型脊椎骨骺端发育不良 |
| Mucormycosis | 毛霉菌病 |
| Capillary Malformations, Congenital | 先天性毛细血管畸形 |
| Zellweger Syndrome | 泽尔韦格综合征 |
| Lysosomal Disease | 溶酶体疾病 |
| Skin Carcinoma | 皮肤癌 |
| Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease | 伴或不伴多囊肝的多囊肾病1型 |
| Small Cell Carcinoma | 小细胞癌 |
| Macular Dystrophy, Vitelliform, 4 | 卵黄状黄斑营养不良4型 |
| Meningitis | 脑膜炎 |
| Keratosis | 角化病 |
| Polycystic Ovary Syndrome | 多囊卵巢综合征 |
| Senior-Loken Syndrome 5 | Senior-Loken综合征 5 |
| Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous | 交界性大疱性表皮松解症 2c，喉甲皮肤 |
| Cranioectodermal Dysplasia 1 | 颅外胚层发育不良 1 |
| Foster-Kennedy Syndrome | Foster-Kennedy综合征 |
| Patent Ductus Arteriosus | 动脉导管未闭 |
| Ceroid Lipofuscinosis, Neuronal, 10 | 神经元蜡样脂褐质沉积症 10 |
| Hypotrichosis, Congenital, with Juvenile Macular Dystrophy | 先天性少毛症伴青少年黄斑营养不良 |
| Macular Dystrophy, Vitelliform, 5 | 卵黄状黄斑营养不良 5 |
| Renal Cell Carcinoma, Nonpapillary | 非乳头状肾细胞癌 |
| Microphthalmia/coloboma 12 | 小眼畸形/缺损 12 |
| Cone-Rod Dystrophy and Hearing Loss 1 | 视锥-视杆细胞营养不良和听力损失 1 |
| Basal Cell Carcinoma | 基底细胞癌 |
| Nephronophthisis 3 | 肾痨 3 |
| Atypical Hemolytic-Uremic Syndrome | 非典型溶血性尿毒症综合征 |
| Stomatitis | 口腔炎 |
| Isolated Encephalocele | 孤立性脑膨出 |
| Aica-Ribosiduria Due to Atic Deficiency | Aica-因呼吸功能障碍引起的核糖苷尿症 |
| Cryptorchidism, Unilateral or Bilateral | 单侧或双侧隐睾双侧 |
| Sveinsson Chorioretinal Atrophy | Sveinsson脉络膜视网膜萎缩 |
| Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎发育不良3型 |
| Apraxia | 失用症 |
| Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz综合征 |
| Hypotrichosis | 少毛症 |
| Celiac Disease | 乳糜泻 |
| Tritanopia | 蓝色盲 |
| Cystic Fibrosis | 囊性纤维化 |
| Neurilemmoma | 神经鞘瘤 |
| Duane Retraction Syndrome 1 | 杜安眼球退缩综合征1 |
| Osteoporosis-Pseudoglioma Syndrome | 骨质疏松症-假性神经胶质瘤综合征 |
| Exudative Vitreoretinopathy 6 | 渗出性玻璃体视网膜病变6 |
| Cold-Induced Sweating Syndrome | 冷诱发性出汗综合征 |
| Alopecia Areata | 斑秃 |
| Motor Neuron Disease | 运动神经元病 |
| Progressive Supranuclear Palsy | 进行性核上性麻痹 |
| Lyme Disease | 莱姆病 |
| Choreatic Disease | 舞蹈病 |
| Bornholm Eye Disease | 博恩霍尔姆眼病 |
| Brittle Cornea Syndrome 1 | 脆性角膜综合征1 |
| Xeroderma Pigmentosum, Variant Type | 色素性干皮病（变异型） |
| Bradyopsia | 视迟钝 |
| Trichomegaly | 毛发增多症 |
| Ring Chromosome 5 | 5号环状染色体异常 |
| Psoriasis | 银屑病 |
| Osteogenic Sarcoma | 成骨性肉瘤 |
| Isolated Optic Neuritis | 孤立性视神经炎 |
| Neurodevelopmental Disorder with Visual Defects and Brain Anomalies | 伴有视觉缺陷和脑异常的神经发育障碍 |
| Neuromuscular Disease | 神经肌肉疾病 |
| Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome | 先天性铁粒幼细胞贫血-B细胞免疫缺陷-周期性发热-发育迟缓综合征 |
| Cortical Blindness | 皮质性盲 |
| Bardet-Biedl Syndrome 14 | Bardet-Biedl综合征14 |
| Hyperlipoproteinemia, Type I | I型高脂蛋白血症 |
| Noonan Syndrome 1 | Noonan综合征1 |
| Pulmonary Hypertension, Primary, 1 | 原发性肺动脉高压1 |
| Bardet-Biedl Syndrome 22 | Bardet-Biedl综合征22 |
| Anorexia Nervosa | 神经性厌食症 |
| Primary Ovarian Insufficiency | 原发性卵巢功能不全 |
| Machado-Joseph Disease | Machado-Joseph病 |
| Lymphopenia | 淋巴细胞减少症 |
| Blepharitis | 睑缘炎 |
| C Syndrome | C综合征 |
| Nanophthalmos 2 | 小眼球2 |
| Facial Hemiatrophy | 面部半萎缩 |
| Refractive Amblyopia | 屈光性弱视 |
| Gaucher's Disease | 戈谢病 |
| Seasonal Affective Disorder | 季节性情感障碍 |
| Self-Limited Epilepsy with Centrotemporal Spikes | 伴中央颞叶棘波的自限性癫痫 |
| Mitochondrial Complex V Deficiency, Mitochondrial Type 1 | 线粒体复合物V缺乏症，1型 |
| Homocarnosinosis | 同型肌瘤病 |
| Joubert Syndrome 10 | Joubert综合征10 |
| Myoclonic Epilepsy of Unverricht and Lundborg | Unverricht和Lundborg肌阵挛性癫痫 |
| Progressive Myoclonus Epilepsy | 进行性肌阵挛癫痫 |
| Tertiary Neurosyphilis | 三期神经梅毒 |
| Amenorrhea | 闭经 |
| Pseudopapilledema | 假性视乳头水肿 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 | 线粒体复合物I缺乏症，核型1 |
| Auditory Neuropathy | 听觉神经病变 |
| Nail Disorder, Nonsyndromic Congenital, 9 | 非综合征性先天性指甲病变，9 |
| Retinopathy, Pericentral Pigmentary, Dominant | 视网膜病变，中央周围色素性，显性遗传 |
| Keratoconjunctivitis Sicca | 干燥性角结膜炎 |
| Hemochromatosis, Type 1 | 血色病，1型 |
| Orthostatic Intolerance | 直立不耐受 |
| Hyper-Igd Syndrome | 高免疫球蛋白D综合征 |
| Aortic Valve Disease 2 | 主动脉瓣病变2 |
| Methylmalonic Aciduria and Homocystinuria | 甲基丙二酸尿症和同型胱氨酸尿症 |
| Progressive Non-Infectious Anterior Vertebral Fusion | 进行性非感染性前椎融合术 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome | 甲状旁腺功能减退症-发育迟缓-畸形综合征 |
| Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎发育不良10 |
| Argyria | 银质沉着症 |
| Bilateral Retinoblastoma | 双侧视网膜母细胞瘤 |
| Gaucher Disease, Type I | 戈谢病，1型 |
| Acute Myocardial Infarction | 急性心肌梗死梗死 |
| Crisponi/cold-Induced Sweating Syndrome 1 | Crisponi/冷诱发出汗综合征 1 |
| Acanthosis Nigricans | 黑棘皮症 |
| Bardet-Biedl Syndrome 18 | Bardet-Biedl 综合征 18 |
| Cone-Rod Dystrophy and Hearing Loss 2 | 视锥-视杆细胞营养不良和听力损失 2 |
| Age-Related Hearing Loss | 年龄相关性听力损失 |
| Cholestasis | 胆汁淤积 |
| Gardner Syndrome | Gardner 综合征 |
| Heart Septal Defect | 心脏间隔缺损 |
| Bardet-Biedl Syndrome 17 | Bardet-Biedl 综合征 17 |
| Wilms Tumor 1 | Wilms 肿瘤 1 |
| Axonal Neuropathy | 轴突性神经病变 |
| Common Variable Immunodeficiency | 常见变异性免疫缺陷 |
| Glucosephosphate Dehydrogenase Deficiency | 葡萄糖磷酸脱氢酶缺乏症 |
| Senior-Loken Syndrome 8 | Senior-Loken 综合征 8 |
| Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) | 伴骨髓嗜酸性粒细胞异常的急性髓系白血病 Inv(16)(p13q22) 或 T(16;16)(p13;q22) |
| Spinocerebellar Ataxia 1 | 脊髓小脑共济失调 1 |
| Nijmegen Breakage Syndrome | Nijmegen 断裂综合征 |
| Factor Vii Deficiency | 因子 VII 缺乏症 |
| Macular Dystrophy, Vitelliform, 1 | 黄斑卵黄样营养不良症 1 |
| Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome | 外胚层发育不良、缺指畸形和黄斑营养不良综合征 |
| Combined Immunodeficiency | 联合免疫缺陷 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | 硫胺素反应性巨幼细胞性贫血综合征 |
| Common Cold | 普通感冒 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 | 线粒体复合物 IV 缺乏症，核型 1 |
| Basal Cell Carcinoma 1 | 基底细胞癌 1 |
| Nonsyndromic Genetic Hyperinsulinism | 非综合征性遗传性高胰岛素血症 |
| Sideroblastic Anemia | 铁粒幼细胞贫血 |
| Papilloma | 乳头状瘤 |
| Brittle Bone Disorder | 脆骨症 |
| Arts Syndrome | 阿茨综合征 |
| Oligocone Trichromacy | 少锥三色性视 |
| Hemolytic Anemia | 溶血性贫血 |
| Twinning, Dizygotic | 异卵双胞胎 |
| Congenital Rubella Syndrome | 先天性风疹综合征 |
| Corneal Endothelial Dystrophy | 角膜内皮营养不良 |
| Alagille Syndrome 1 | 阿拉吉尔综合征 1 |
| Palmoplantar Keratosis | 掌跖角化病 |
| Migraine Without Aura | 无先兆偏头痛 |
| Basal Cell Nevus Syndrome 1 | 基底细胞痣综合征 1 |
| Mood Disorder | 情绪障碍 |
| Iga Glomerulonephritis | 免疫球蛋白血症（IGA）肾小球肾炎 |
| Joubert Syndrome 3 | Joubert 综合征3 |
| Meckel Syndrome, Type 4 | 梅克尔综合征，4型 |
| Iron Overload | 铁超负荷 |
| Pick Disease of Brain | 脑皮克病 |
| Inflammatory Bowel Disease 1 | 炎症性肠病1 |
| Non-Syndromic Genetic Deafness | 无综合征性遗传性耳聋 |
| Alport Syndrome 2, Autosomal Recessive | 常染色体隐性遗传的阿尔波特综合征2 |
| Cone-Rod Dystrophy 11 | 视锥-视杆营养不良11 |
| Dermatomyositis | 皮肌炎 |
| Scrapie | 羊痒病 |
| Hypotrichosis 7 | 少毛症7 |
| Autosomal Recessive Alport Syndrome | 常染色体隐性遗传的阿尔波特综合征 |
| Christian Syndrome | 克里斯蒂安综合征 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | 3-羟酰基辅酶A脱氢酶缺乏症 |
| Deafness, Autosomal Recessive 31 | 常染色体隐性遗传的耳聋31 |
| Metabolic Acidosis | 代谢性酸中毒 |
| Bell's Palsy | 贝尔氏麻痹 |
| Aortic Valve Disease 1 | 主动脉瓣膜病1 |
| Meniere Disease | 梅尼埃病 |
| Bardet-Biedl Syndrome 13 | 巴德-比德尔综合征13 |
| Bardet-Biedl Syndrome 21 | 巴德-比德尔综合征21 |
| Focal Segmental Glomerulosclerosis | 局灶节段性肾小球硬化症 |
| Myelofibrosis | 骨髓纤维化 |
| Neural Tube Defects | 神经管缺陷 |
| Renal Cell Carcinoma | 肾细胞癌 |
| Deafness, Autosomal Recessive 18a | 常染色体遗传性耳聋隐性18a |
| Thyroiditis | 甲状腺炎 |
| Blepharophimosis | 睑裂狭小症 |
| Cryoglobulinemia | 冷球蛋白血症 |
| Opitz Gbbb Syndrome | Opitz-Gbbb综合征 |
| Bardet-Biedl Syndrome 20 | Bardet-Biedl综合征20 |
| Angioedema | 血管性水肿 |
| Aortic Valve Insufficiency | 主动脉瓣关闭不全 |
| Usher Syndrome, Type Ik | Usher综合征，Ik型 |
| Arthrogryposis Syndrome | 关节弯曲综合征 |
| Portal Hypertension | 门静脉高压 |
| Kidney Cancer | 肾癌 |
| Methylmalonic Aciduria and Homocystinuria, Cblc Type | 甲基丙二酸尿症和高胱氨酸尿症，Cblc型 |
| Nephronophthisis 2 | 肾痨2型 |
| Quadriplegia | 四肢瘫痪 |
| Fuchs' Endothelial Dystrophy | Fuchs内皮营养不良症 |
| Aphthous Stomatitis | 口疮性口炎 |
| Corneal Ulcer | 角膜溃疡 |
| Danon Disease | Danon病 |
| Infective Endocarditis | 感染性心内膜炎 |
| Adrenal Gland Disease | 肾上腺疾病 |
| Optic Pathway Glioma | 视神经胶质瘤 |
| Macular Dystrophy with Central Cone Involvement | 伴中央锥体受累的黄斑营养不良 |
| Mutism | 缄默症 |
| Muscular Dystrophy-Dystroglycanopathy , Type B, 3 | 肌营养不良-肌营养不良蛋白聚糖病，B型，3型 |
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 | 肌营养不良-肌营养不良蛋白聚糖病，B型C, 3 |
| Megaloblastic Anemia | 巨幼细胞性贫血 |
| Iga Nephropathy 1 | IGA肾病1 |
| Interstitial Lung Disease | 间质性肺病 |
| Bardet-Biedl Syndrome 16 | Bardet-Biedl综合征16 |
| Spinal Muscular Atrophy | 脊髓性肌萎缩 |
| Cone-Rod Dystrophy 19 | 视锥-视杆营养不良19 |
| Usher Syndrome, Type Iiib | Usher综合征，IIIb型 |
| Alpha-Methylacyl-Coa Racemase Deficiency | α-甲基酰基辅酶A消旋酶缺乏症 |
| Asphyxia Neonatorum | 新生儿窒息 |
| Night Blindness, Congenital Stationary, Type 1g | 先天性静止性夜盲症，1g型 |
| Liver Cirrhosis | 肝硬化 |
| Polymicrogyria | 多小脑回畸形 |
| Williams-Beuren Syndrome | Williams-Beuren综合征 |
| Tetralogy of Fallot | 法洛四联症 |
| Hemifacial Atrophy, Progressive | 进行性半颜面萎缩 |
| Ring Chromosome 14 Syndrome | 14号环状染色体综合征 |
| Ras-Associated Autoimmune Leukoproliferative Disorder | Ras相关自身免疫性白细胞增生性疾病 |
| Mrcs Syndrome | MRCS综合征 |
| Malignant Atrophic Papulosis | 恶性萎缩性丘疹病 |
| Bohring-Opitz Syndrome | Bohring-Opitz综合征 |
| Essential Thrombocythemia | 原发性血小板增多症 |
| Alpha-Thalassemia | α-地中海贫血 |
| Autosomal Dominant Optic Atrophy, Classic Form | 常染色体显性遗传经典型视神经萎缩 |
| Smith-Magenis Syndrome | 史密斯-马吉尼斯综合征 |
| Lichen Planus | 扁平苔藓 |
| Adrenoleukodystrophy | 肾上腺脑白质营养不良 |
| Arthropathy | 关节病 |
| Cold-Induced Sweating Syndrome 1 | 冷诱发性出汗综合征1 |
| Hashimoto Thyroiditis | 桥本甲状腺炎 |
| Joubert Syndrome with Ocular Defect | 伴有眼部缺损的Joubert综合征 |
由于篇幅有限，我们未能将另外一千多种疾病名称列出。(责任编辑：Trust科技基因)
