【佳學基因檢測】視網膜色素變性基因檢測選擇什么樣的項目，做什么標準？
趙佳學的情況介紹
2025年國慶期間，趙佳學（化名）通過佳學基因官網咨詢基因解碼師。諮詢“視網膜色素變性基因檢測相關事宜”。趙佳學介紹說:"我的姥姥有這個疾病，然后我的大姨二姨也有這個問題，大姨有一個孩子,也有這個問題，大姨孩子的后代沒有這個問題。二姨有兩個孩子，一男一女也都有這個問題，男孩的后代沒有這個問題。女孩的后代有這個問題。我媽跟我三姨，跟我舅舅，現在六十多歲，目前沒有這個問題，他們的后代包括我，目前也沒有問題， 我想看看我的后代會不會有問題。
人為什么會得視網膜色素變性？
視網膜色素變性是一組遺傳性疾病，全球每 3000 到 8000 人中就有 1 人患有此病，最終影響生活質量。視網膜色素變性是一種異質性遺傳疾病，其特點是視網膜進行性退化，從而導致進行性視力喪失。它可以以綜合征形式出現（如 Usher 綜合征和 Bardet-Biedl 綜合征），也可以以非綜合征形式出現。遺傳方式可以是 X 連鎖、常染色體顯性或常染色體隱性。迄今為止，佳學基因已收集數百個基因的突主為可以產生視網膜色素變性或者產生類似視網膜變性的疾病征狀。其中大多數在感光細胞或視網膜色素上皮中表達。佳學基因通過科普文章重點介紹視網膜色素變性的發(fā)病機制和遺傳學。由于視網膜色素變性是一種極其異質性的疾病，表現出多種突變；同一基因的不同變異可能會誘發(fā)不同的疾病。因此，采用基于全外顯子測序及基因解碼技術的視網膜色素變性基因檢測可以以更高的檢出率和陽性率發(fā)現導致疾病發(fā)生的基因原因，明確基因突變，有效地揭示了視網膜色素變性的隱藏成因。眼科致病基因鑒定突變基因檢測結果， 將有助于更好地理解疾病的基因型-表型相關性，并可能開發(fā)新的治療方法。
佳學基因視網膜疾病專項基因檢測所覆蓋的疾病類型
| 英文疾病名稱 | 中文疾病名稱 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus | 肌肉萎縮、共濟失調、視網膜色素變性及糖尿病 |
| Neuropathy, Ataxia, and Retinitis Pigmentosa | 神經病變、共濟失調及視網膜色素變性 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract | 多發(fā)性神經病變、聽力損失、共濟失調、視網膜色素變性及白內障 |
| Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene | 視網膜色素變性-1基因突變導致的視網膜纖毛病變 |
| Retinal Degeneration | 視網膜變性 |
| Retinal Detachment | 視網膜脫離 |
| Retinal Disease | 視網膜疾病 |
| Retinitis | 視網膜炎 |
| Retinitis Pigmentosa | 視網膜色素變性 |
| Retinitis Pigmentosa 1 | 視網膜色素變性1型 |
| Retinitis Pigmentosa 10 | 視網膜色素變性10型 |
| Retinitis Pigmentosa 11 | 視網膜色素變性11型 |
| Retinitis Pigmentosa 12 | 視網膜色素變性12型 |
| Retinitis Pigmentosa 13 | 視網膜色素變性13型 |
| Retinitis Pigmentosa 14 | 視網膜色素變性14型 |
| Retinitis Pigmentosa 17 | 視網膜色素變性17型 |
| Retinitis Pigmentosa 18 | 視網膜色素變性18型 |
| Retinitis Pigmentosa 19 | 視網膜色素變性19型 |
| Retinitis Pigmentosa 2 | 視網膜色素變性2型 |
| Retinitis Pigmentosa 20 | 視網膜色素變性20型 |
| Retinitis Pigmentosa 22 | 視網膜色素變性22型 |
| Retinitis Pigmentosa 23 | 視網膜炎視網膜色素變性23型 |
| Retinitis Pigmentosa 24 | 視網膜色素變性24型 |
| Retinitis Pigmentosa 25 | 視網膜色素變性25型 |
| Retinitis Pigmentosa 26 | 視網膜色素變性26型 |
| Retinitis Pigmentosa 27 | 視網膜色素變性27型 |
| Retinitis Pigmentosa 28 | 視網膜色素變性28型 |
| Retinitis Pigmentosa 29 | 視網膜色素變性29型 |
| Retinitis Pigmentosa 3 | 視網膜色素變性3型 |
| Retinitis Pigmentosa 30 | 視網膜色素變性30型 |
| Retinitis Pigmentosa 31 | 視網膜色素變性31型 |
| Retinitis Pigmentosa 32 | 視網膜色素變性32型 |
| Retinitis Pigmentosa 33 | 視網膜色素變性33型 |
| Retinitis Pigmentosa 34 | 視網膜色素變性34型 |
| Retinitis Pigmentosa 35 | 視網膜色素變性35型 |
| Retinitis Pigmentosa 36 | 視網膜色素變性36型 |
| Retinitis Pigmentosa 37 | 視網膜色素變性37型 |
| Retinitis Pigmentosa 38 | 視網膜色素變性38型 |
| Retinitis Pigmentosa 39 | 視網膜色素變性39型 |
| Retinitis Pigmentosa 4 | 視網膜色素變性4型 |
| Retinitis Pigmentosa 40 | 視網膜色素變性40型 |
| Retinitis Pigmentosa 41 | 視網膜色素變性41型 |
| Retinitis Pigmentosa 42 | 視網膜色素變性42型 |
| Retinitis Pigmentosa 43 | 視網膜色素變性43型 |
| Retinitis Pigmentosa 44 | 視網膜色素變性44型 |
| Retinitis Pigmentosa 45 | 視網膜色素變性45型 |
| Retinitis Pigmentosa 46 | 視網膜色素變性46型 |
| Retinitis Pigmentosa 47 | 視網膜色素變性47型 |
| Retinitis Pigmentosa 48 | 視網膜色素變性48型 |
| Retinitis Pigmentosa 49 | 視網膜色素變性49型 |
| Retinitis Pigmentosa 50 | 視網膜色素變性50型 |
| Retinitis Pigmentosa 51 | 視網膜色素變性51型 |
| Retinitis Pigmentosa 54 | 視網膜色素變性54型 |
| Retinitis Pigmentosa 55 | 視網膜色素變性55型 |
| Retinitis Pigmentosa 56 | 視網膜色素變性56型 |
| Retinitis Pigmentosa 57 | 視網膜色素變性57型 |
| Retinitis Pigmentosa 58 | 視網膜色素變性58型 |
| Retinitis Pigmentosa 59 | 視網膜色素變性59型 |
| Retinitis Pigmentosa 6 | 視網膜色素變性6型 |
| Retinitis Pigmentosa 60 | 視網膜色素變性60型 |
| Retinitis Pigmentosa 61 | 視網膜色素變性61型 |
| Retinitis Pigmentosa 62 | 視網膜色素變性62型 |
| Retinitis Pigmentosa 63 | 視網膜色素變性63型 |
| Retinitis Pigmentosa 66 | 視網膜色素變性66型 |
| Retinitis Pigmentosa 67 | 視網膜色素變性67型 |
| Retinitis Pigmentosa 68 | 視網膜色素變性68型 |
| Retinitis Pigmentosa 69 | 視網膜色素變性69型 |
| Retinitis Pigmentosa 7 | 視網膜色素變性7型 |
| Retinitis Pigmentosa 70 | 視網膜色素變性70型 |
| Retinitis Pigmentosa 71 | 視網膜色素變性71型 |
| Retinitis Pigmentosa 72 | 視網膜炎視網膜色素變性72型 |
| Retinitis Pigmentosa 73 | 視網膜色素變性73型 |
| Retinitis Pigmentosa 74 | 視網膜色素變性74型 |
| Retinitis Pigmentosa 75 | 視網膜色素變性75型 |
| Retinitis Pigmentosa 76 | 視網膜色素變性76型 |
| Retinitis Pigmentosa 77 | 視網膜色素變性77型 |
| Retinitis Pigmentosa 78 | 視網膜色素變性78型 |
| Retinitis Pigmentosa 79 | 視網膜色素變性79型 |
| Retinitis Pigmentosa 80 | 視網膜色素變性80型 |
| Retinitis Pigmentosa 81 | 視網膜色素變性81型 |
| Retinitis Pigmentosa 83 | 視網膜色素變性83型 |
| Retinitis Pigmentosa 84 | 視網膜色素變性84型 |
| Retinitis Pigmentosa 85 | 視網膜色素變性85型 |
| Retinitis Pigmentosa 86 | 視網膜色素變性86型 |
| Retinitis Pigmentosa 87 with Choroidal Involvement | 累及脈絡膜的視網膜色素變性87型 |
| Retinitis Pigmentosa 88 | 視網膜色素變性88型 |
| Retinitis Pigmentosa 89 | 視網膜色素變性89型 |
| Retinitis Pigmentosa 9 | 視網膜色素變性9型 |
| Retinitis Pigmentosa 90 | 視網膜色素變性90型 |
| Retinitis Pigmentosa 91 | 視網膜色素變性91型 |
| Retinitis Pigmentosa 92 | 視網膜色素變性92型 |
| Retinitis Pigmentosa 93 | 視網膜色素變性93型 |
| Retinitis Pigmentosa 95 | 視網膜色素變性95型 |
| Retinitis Pigmentosa 96 | 視網膜色素變性96型 |
| Retinitis Pigmentosa 97 | 視網膜炎視網膜色素變性97型 |
| Retinitis Pigmentosa 98 | 視網膜色素變性98型 |
| Retinitis Pigmentosa and Erythrocytic Microcytosis | 視網膜色素變性與紅細胞小紅細胞增多癥 |
| Retinitis Pigmentosa with or Without Skeletal Anomalies | 伴或不伴骨骼異常的視網膜色素變性 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, and Hypogonadism | 視網膜色素變性、耳聾、智力發(fā)育受損和性腺功能低下 |
| Retinitis Pigmentosa, Late-Adult Onset | 晚發(fā)病視網膜色素變性 |
| Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections with or Without Deafness | X連鎖視網膜色素變性以及伴或不伴耳聾的鼻竇呼吸道感染 |
| Retinitis Pigmentosa-Deafness Syndrome | 視網膜色素變性-耳聾綜合征 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies | 身材矮小、聽力損失、視網膜色素變性與特殊面容 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome | X連鎖智力障礙-視網膜色素變性綜合征 |
眼科疾病中，還有哪些疾病會產生與視網膜色素變性類似癥狀，選擇眼科疾病基因檢測所能排除以及確定的癥狀
| 英文疾病名稱 | 中文疾病名稱 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations with Retinitis Pigmentosa | 彈性纖維假黃瘤樣皮膚表現伴視網膜色素變性 |
| Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome | 痙攣性四肢癱瘓-視網膜色素變性-智力障礙綜合征 |
| Intellectual Developmental Disorder and Retinitis Pigmentosa | 智力發(fā)育障礙和視網膜色素變性 |
| Peripheral Retinal Degeneration | 周圍視網膜變性 |
| Retinitis Pigmentosa 82 with or Without Situs Inversus | 視網膜色素變性82伴或不伴內臟反位 |
| Retinitis Pigmentosa with or Without Situs Inversus | 視網膜色素變性伴或不伴內臟反位 |
| Retinitis Pigmentosa, Y-Linked | Y連鎖視網膜色素變性 |
| Retinitis Pigmentosa 99 | 視網膜色素變性99 |
| X-Linked Retinitis Pigmentosa and Sinorespiratory Infections | X連鎖視網膜色素變性及鼻竇呼吸道感染 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogenitalism Syndrome | 視網膜色素變性-智力障礙-耳聾-生殖功能減退綜合征 |
| Neurodegeneration, Early-Childhood-Onset, with Retinitis Pigmentosa, Sensorineural Hearing Loss, and Demyelinating Peripheral Neuropathy | 兒童早期發(fā)病的神經變性，伴有視網膜色素變性、感音神經性聽力損失和脫髓鞘性周圍神經病變 |
| Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa | 肢根發(fā)育不良、脊柱側彎和視網膜色素變性 |
| Spastic Quadriplegia, Retinitis Pigmentosa, and Impaired Intellectual Development | 痙攣性四肢癱瘓、視網膜色素變性及智力發(fā)育障礙 |
| Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities | 耳聾、白內障、視網膜色素變性及精子異常 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome | 促性腺激素性性腺功能低下-視網膜色素變性綜合征 |
| Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome | 骨軟骨發(fā)育不良性侏儒癥-耳聾-視網膜色素變性綜合征 |
| Autosomal Recessive Leukoencephalopathy-Ischemic Stroke-Retinitis Pigmentosa Syndrome | 常染色體隱性遺傳性白質腦病-缺血性卒中-視網膜色素變性綜合征 |
| Hereditary Retinal Dystrophy | 遺傳性視網膜營養(yǎng)不良 |
| Late-Onset Retinal Degeneration | 遲發(fā)性視網膜變性 |
| Nonsyndromic Retinitis Pigmentosa | 非綜合征性視網膜色素變性 |
| Macular Retinal Edema | 黃斑視網膜水腫 |
| Retinal Vein Occlusion | 視網膜靜脈阻塞 |
| Retinal Vascular Disease | 視網膜血管疾病 |
| Retinitis Pigmentosa Inversa with Deafness | 伴耳聾的逆向性視網膜色素變性 |
| Microcephaly, Retinitis Pigmentosa, and Sutural Cataract | 小頭畸形、視網膜色素變性及縫線性白內障 |
| Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa | 伴有視網膜色素變性的肢體骨骼發(fā)育不良 |
| Pallidal Degeneration, Progressive, with Retinitis Pigmentosa | 蒼白球進行性退化，伴有視網膜色素變性 |
| Cytomegalovirus Retinitis | 巨細胞病毒性視網膜炎 |
| Cone-Rod Dystrophy 2 | 視錐-視桿細胞營養(yǎng)不良2型 |
| Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | 視網膜營養(yǎng)不良、青少年白內障和矮小綜合征 |
| Retinal Artery Occlusion | 視網膜動脈阻塞 |
| Retinal Perforation | 視網膜穿孔 |
| Central Retinal Vein Occlusion | 視網膜中央靜脈阻塞 |
| Retinal Vascular Occlusion | 視網膜血管阻塞 |
| Microphthalmia, Isolated 5 | 孤立性小眼球癥5型 |
| Retinal Ischemia | 視網膜缺血 |
| Retinal Vasculitis | 視網膜血管炎 |
| Inherited Retinal Disorder | 遺傳性視網膜疾病 |
| Retinopathy-Sensory Neuropathy Syndrome | 視網膜病變-感覺神經病變綜合征 |
| Central Retinal Artery Occlusion | 視網膜中央動脈阻塞 |
| Branch Retinal Artery Occlusion | 視網膜分支動脈阻塞 |
| Pseudoretinitis Pigmentosa | 假性視網膜色素變性 |
| Acute Retinal Necrosis Syndrome | 急性視網膜壞死綜合征 |
| Doyne Honeycomb Retinal Dystrophy | 多因蜂窩狀視網膜營養(yǎng)不良 |
| Retinal Cancer | 視網膜癌 |
| Bothnia Retinal Dystrophy | 博思尼亞視網膜營養(yǎng)不良 |
| Macular Dystrophy, Retinal, 2 | 視網膜黃斑營養(yǎng)不良2型 |
| Usher Syndrome | 烏謝爾綜合征 |
| Retinal Cone Dystrophy 1 | 視網膜視錐細胞營養(yǎng)不良 1 型 |
| Retinal Cone Dystrophy 4 | 視錐細胞營養(yǎng)不良 4 型 |
| Retinal Cone Dystrophy 3a | 視錐細胞營養(yǎng)不良 3a 型 |
| Infantile Cerebellar-Retinal Degeneration | 嬰兒小腦-視網膜變性 |
| Macular Dystrophy, Retinal, 1, North Carolina Type | 視網膜黃斑營養(yǎng)不良 1 型，北卡羅來納州型 |
| Fundus Dystrophy | 眼底營養(yǎng)不良 |
| Retinal Cone Dystrophy 3b | 視錐細胞營養(yǎng)不良 3b 型 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome | 智力發(fā)育受損、軀干肥胖、視網膜營養(yǎng)不良和小陰莖綜合征 |
| Age Related Macular Degeneration | 老年性黃斑變性 |
| Retinal Dystrophy and Obesity | 視網膜營養(yǎng)不良和肥胖 |
| Stargardt Disease 1 | Stargardt 病 1 型 |
| Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome | 視網膜營養(yǎng)不良、虹膜缺損和粉刺性痤瘡綜合征 |
| Retinal Lattice Degeneration | 視網膜格子樣變性 |
| Retinal Dystrophy with or Without Macular Staphyloma | 伴或不伴黃斑葡萄腫的視網膜營養(yǎng)不良 |
| Retinal Telangiectasia | 視網膜毛細血管擴張 |
| Microvascular Complications of Diabetes 5 | 糖尿病微血管并發(fā)癥 5 型 |
| Progressive Retinal Dystrophy Due to Retinol Transport Defect | 視黃醇轉運缺陷導致的進行性視網膜營養(yǎng)不良 |
| Cone-Rod Dystrophy 16 | 視錐-視桿細胞營養(yǎng)不良16 |
| Retinal Macular Dystrophy | 視網膜黃斑營養(yǎng)不良 |
| Neurodegeneration with Brain Iron Accumulation 1 | 伴腦鐵沉積的神經變性 1 |
| Reticular Dystrophy of Retinal Pigment Epithelium | 視網膜色素上皮網狀營養(yǎng)不良 |
| Syndromic Inherited Retinal Disorder | 綜合征性遺傳性視網膜疾病 |
| Retinal Dystrophy with or Without Extraocular Anomalies | 伴或不伴眼外畸形的視網膜營養(yǎng)不良 |
| Cone-Rod Dystrophy 15 | 視錐-視桿細胞營養(yǎng)不良 15 |
| Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole | 后極部網狀色素性視網膜營養(yǎng)不良 |
| Leber Plus Disease | Leber 綜合征 |
| Retinal Aplasia | 視網膜發(fā)育不全 |
| Rhyns Syndrome | Rhyns 綜合征 |
| Macular Degeneration | 黃斑變性 |
| Isolated Retinal Racemose Hemangioma | 孤立性視網膜蔓狀血管瘤 |
| Combined Hamartoma of the Retina and Retinal Pigment Epithelium | 視網膜和視網膜色素上皮復合錯構瘤 |
| Retinal Ciliopathy | 視網膜纖毛病變 |
| Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | Leber 先天性黑蒙/早發(fā)性重度視網膜營養(yǎng)不良 |
| Fundus Albipunctatus | 白點狀眼底 |
| Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | Rpe65 相關 Leber 先天性黑蒙/早發(fā)性重度視網膜營養(yǎng)不良 |
| Leber Congenital Amaurosis 14 | Leber先天性黑蒙 14 |
| Syndromic Rod-Cone Dystrophy | 綜合征性視桿-視錐細胞營養(yǎng)不良 |
| Usher Syndrome, Type I | Usher 綜合征，I 型 |
| Rare Retinal Disorder | 罕見視網膜疾病 |
| Leber Congenital Amaurosis 13 | Leber 先天性黑蒙 13 |
| Senior-Loken Syndrome 1 | Senior-Loken 綜合征 1 |
| Neuroretinitis | 神經視網膜炎 |
| Cone-Rod Dystrophy 6 | 視錐-視桿細胞營養(yǎng)不良 6 |
| Vitreoretinopathy, Neovascular Inflammatory | 新生血管性炎癥性玻璃體視網膜病變 |
| Macular Dystrophy, Dominant Cystoid | 顯性囊樣黃斑營養(yǎng)不良 |
| Coats Disease | Coats 病 |
| Leber Congenital Amaurosis 4 | Leber 先天性黑蒙 4 |
| Macular Dystrophy, Patterned, 1 | 圖案性黃斑營養(yǎng)不良 1 |
| Myopia | 近視 |
| Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a | 攣縮、翼狀胬肉和脊柱腕跗關節(jié)融合綜合征 1a |
| Bile Acid Synthesis Defect, Congenital, 4 | 先天性膽汁酸合成缺陷 4 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | 持續(xù)性增生性原發(fā)性玻璃體，常染色體隱性遺傳 |
| Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly | 短肋胸椎發(fā)育不良 9（伴或不伴多指畸形） |
| Spastic Paraplegia 15, Autosomal Recessive | 痙攣性截癱 15（常染色體遺傳）隱性遺傳 |
| Eye Disease | 眼病 |
| Orofaciodigital Syndrome Ix | 口面指綜合征 IX |
| Eales Disease | 伊爾斯病 |
| Cone-Rod Dystrophy 1 | 1 型視錐-視桿細胞營養(yǎng)不良癥 |
| Retinoblastoma | 視網膜母細胞瘤 |
| Leber Congenital Amaurosis 3 | 萊伯先天性黑朦 3 |
| Intraocular Pressure Quantitative Trait Locus | 眼壓定量特征位點綜合征 |
| Cohen Syndrome | 科恩綜合征 |
| Cone Dystrophy | 視錐細胞營養(yǎng)不良 |
| Macular Dystrophy, Patterned, 3 | 3 型圖案性黃斑營養(yǎng)不良 |
| Uveitis | 葡萄膜炎 |
| Vitreoretinopathy | 玻璃體視網膜病變 |
| Persistent Hyperplastic Primary Vitreous | 持續(xù)性增生性原發(fā)性玻璃體 |
| Cone-Rod Dystrophy 7 | 7 型視錐-視桿細胞營養(yǎng)不良癥 |
| Kuhnt-Junius Degeneration | 庫恩特-尤尼烏斯變性 |
| Cataract | 白內障 |
| Cone-Rod Dystrophy 9 | 9 型視錐-視桿細胞營養(yǎng)不良癥 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive | 常染色體隱性中央周圍色素性視網膜病變 |
| Chromosome Xp11.3 Deletion Syndrome | Xp11.3 染色體缺失綜合征 |
| Microcephaly with or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development | 伴或不伴脈絡膜視網膜病變、淋巴水腫或智力發(fā)育受損的小頭畸形 |
| Night Blindness | 夜盲癥 |
| Knobloch Syndrome 1 | 1 型諾布洛赫綜合征 |
| Macular Holes | 黃斑裂孔 |
| Optic Nerve Disease | 視神經疾病 |
| Usher Syndrome, Type Iia | Usher綜合征，IIa型 |
| Retinopathy of Prematurity | 早產兒視網膜病變 |
| Microvascular Complications of Diabetes 1 | 1型糖尿病微血管并發(fā)癥 |
| Walker-Warburg Syndrome | Walker-Warburg綜合征 |
| Neuronal Ceroid Lipofuscinosis | 神經元蠟樣脂褐質沉積癥 |
| Spinocerebellar Ataxia 7 | 脊髓小腦共濟失調7型 |
| Microvascular Complications of Diabetes 2 | 2型糖尿病微血管并發(fā)癥 |
| Photosensitive Occipital Lobe Epilepsy | 光敏性枕葉癲癇 |
| Chorioretinal Scar | 脈絡膜視網膜瘢痕 |
| 3-Methylglutaconic Aciduria, Type Iii | 3-甲基戊二酸尿癥，III型 |
| Familial Drusen | 家族性糖尿病 |
| Muscular Dystrophy-Dystroglycanopathy , Type a, 1 | 肌營養(yǎng)不良癥-肌營養(yǎng)不良蛋白病，a型，1型 |
| Progressive Cone Dystrophy | 進行性視錐細胞營養(yǎng)不良 |
| Diabetic Macular Edema | 糖尿病性黃斑水腫 |
| Knobloch Syndrome | 諾布洛赫綜合征 |
| Leber Congenital Amaurosis 1 | 萊伯先天性黑朦1型 |
| Open-Angle Glaucoma | 開角型青光眼 |
| Vasculitis | 血管炎 |
| Refractive Error | 屈光不正 |
| Cone-Rod Dystrophy 21 | 視錐-視桿細胞營養(yǎng)不良2型 |
| Vascular Disease | 血管疾病 |
| Glaucoma, Primary Open Angle | 原發(fā)性開角型青光眼 |
| Lowry-Wood Syndrome | 勞瑞-伍德綜合征 |
| Pattern Dystrophy | 視錐細胞營養(yǎng)不良 |
| Stargardt Macular Degeneration | 斯塔加特黃斑變性 |
| Bardet-Biedl Syndrome | 巴德-比德爾綜合征 |
| Choroideremia | 脈絡膜視網膜病變 |
| Anterior Uveitis | 前葡萄膜炎 |
| Neuropathy | 神經病變 |
| Bardet-Biedl Syndrome 1 | 巴德-比德爾綜合征1型 |
| Posterior Uveitis | 后葡萄膜炎 |
| Scotoma | 暗點 |
| Acquired Immunodeficiency Syndrome | 獲得性免疫缺陷綜合征 |
| Central Serous Chorioretinopathy | 中心性漿液性脈絡膜視網膜病變 |
| Preretinal Fibrosis | 視網膜前纖維化 |
| Retinoschisis | 視網膜劈裂 |
| Susac Syndrome | 蘇薩克綜合征 |
| Cone Dystrophy 3 | 視錐細胞營養(yǎng)不良3 |
| Vasoproliferative Tumor of the Retina | 視網膜血管增生性腫瘤 |
| Ocular Hypertension | 高眼壓 |
| Neuritis | 神經炎 |
| Usher Syndrome Type 2 | Usher綜合征2型 |
| Optic Neuritis | 視神經炎 |
| Vitreous Detachment | 玻璃體脫離 |
| Oliver-Mcfarlane Syndrome | Oliver-Mcfarlane綜合征 |
| Cockayne Syndrome | Cockayne綜合征 |
| Endophthalmitis | 眼內炎 |
| Telangiectasis | 毛細血管擴張 |
| Ischemia | 缺血 |
| Pathologic Nystagmus | 病理性眼球震顫 |
| Retinoschisis 1, X-Linked, Juvenile | X連鎖青少年型視網膜劈裂癥1型 |
| Turner Syndrome | Turner綜合征 |
| Urticaria | 蕁麻疹 |
| Neovascular Glaucoma | 新生血管性青光眼 |
| Night Blindness, Congenital Stationary, Type 1a | 先天性靜止性夜盲癥1a型 |
| Leber Hereditary Optic Neuropathy, Modifier of | Leber遺傳性視神經病變（修飾型） |
| Immune Deficiency Disease | 免疫缺陷病 |
| Sensorineural Hearing Loss | 感音神經性聽力損失 |
| Primary Ciliary Dyskinesia | 原發(fā)性纖毛運動障礙 |
| Diabetes Mellitus | 糖尿病 |
| Nonarteritic Anterior Ischemic Optic Neuropathy | 非動脈炎性前部缺血性視神經病變 |
| Nephronophthisis | 腎癆 |
| Bietti Crystalline Corneoretinal Dystrophy | Bietti晶體性角視網膜營養(yǎng)不良癥 |
| Macular Dystrophy, Vitelliform, 2 | 黃斑卵黃狀營養(yǎng)不良癥 2 |
| Joubert Syndrome 1 | Joubert 綜合征 1 |
| Strabismus | 斜視 |
| Congenital Stationary Night Blindness | 先天性靜止性夜盲癥 |
| Achromatopsia | 全色盲 |
| Exudative Vitreoretinopathy | 滲出性玻璃體視網膜病變 |
| Amblyopia | 弱視 |
| Goldmann-Favre Syndrome | Goldmann-Favre 綜合征 |
| Von Hippel-Lindau Syndrome | Von Hippel-Lindau 綜合征 |
| Toxoplasmosis | 弓形蟲病 |
| Hyperglycemia | 高血糖癥 |
| Microphthalmia | 小眼畸形 |
| Enhanced S-Cone Syndrome | 增強型 S 錐體綜合征 |
| Leber Congenital Amaurosis 2 | Leber 先天性黑蒙癥 2 |
| Type 1 Diabetes Mellitus | 1 型糖尿病 |
| Herpes Zoster | 帶狀皰疹 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies | 宮內生長遲緩、干骺端發(fā)育不良、先天性腎上腺發(fā)育不全和生殖器畸形 |
| Primary Angle-Closure Glaucoma | 原發(fā)性閉角型青光眼 |
| Ciliopathy | 睫狀體病變 |
| Coloboma of Macula | 黃斑缺損 |
| Farsightedness | 遠視 |
| Vitelliform Macular Dystrophy | 卵黃狀黃斑營養(yǎng)不良癥 |
| Glaucoma 1, Open Angle, F | 1 型開角型青光眼 |
| Hypertension, Essential | 原發(fā)性高血壓 |
| Alzheimer's Disease | 阿爾茨海默病疾病 |
| Chorioretinitis | 脈絡膜視網膜炎 |
| Exudative Vitreoretinopathy 1 | 滲出性玻璃體視網膜病變 1 |
| Hemangioma | 血管瘤 |
| Chickenpox | 水痘 |
| Leber Congenital Amaurosis 8 | 萊伯氏先天性黑朦 8 |
| Multiple Sclerosis | 多發(fā)性硬化癥 |
| Posttransplant Acute Limbic Encephalitis | 移植后急性邊緣葉腦炎 |
| Glaucoma, Normal Tension | 正常眼壓性青光眼 |
| Refsum Disease, Classic | 經典型雷夫蘇姆病 |
| Choroidal Dystrophy, Central Areolar, 1 | 中央乳暈脈絡膜營養(yǎng)不良 1 |
| Hypertension | 高血壓 |
| Bestrophinopathy, Autosomal Recessive | 常染色體隱性遺傳性視網膜萎縮蛋白病 |
| Hypertensive Retinopathy | 高血壓性視網膜病變 |
| Usher Syndrome, Type Iiia | Usher 綜合征，IIIa 型 |
| Tatton-Brown-Rahman Syndrome | Tatton-Brown-Rahman 綜合征 |
| Panuveitis | 全葡萄膜炎 |
| Hereditary Optic Neuropathy | 遺傳性視神經病變 |
| Adult Syndrome | 成人綜合征 |
| Usher Syndrome, Type Ic | Usher 綜合征，Ic 型 |
| Fanconi Anemia, Complementation Group E | 范康尼貧血，E 型互補 |
| Parkinson's Disease | 帕金森病 |
| Astigmatism | 散光 |
| Macular Degeneration, Age-Related, 1 | 老年性黃斑變性 1 |
| Optic Disk Drusen | 視盤玻璃膜疣 |
| Polydactyly | 多指畸形 |
| Tuberous Sclerosis 1 | 結節(jié)性硬化癥1 |
| Cerebrovascular Disease | 腦血管疾病 |
| Background Diabetic Retinopathy | 背景：糖尿病視網膜病變 |
| Kearns-Sayre Syndrome | Kearns-Sayre綜合征 |
| Papilledema | 視乳頭水腫 |
| Albinism | 白化病 |
| Ceroid Lipofuscinosis, Neuronal, 3 | 神經元性蠟樣脂褐質沉積癥 3 |
| Tuberous Sclerosis 2 | 結節(jié)性硬化癥 2 |
| Amyloidosis | 淀粉樣變性 |
| Juvenile Nephronophthisis | 青少年性腎癆 |
| Vogt-Koyanagi-Harada Disease | Vogt-小柳-原田病 |
| Optic Atrophy 1 | 視神經萎縮 1 |
| Type 2 Diabetes Mellitus | 2型糖尿病 |
| Stickler Syndrome | Stickler綜合征 |
| Reading Disorder | 閱讀障礙 |
| X-Linked Congenital Retinoschisis | X連鎖先天性視網膜劈裂 |
| Melanoma | 黑色素瘤 |
| Telangiectasia, Impaired Intellectual Development, Microcephaly, Metaphyseal Dysplasia, Eye Abnormalities, and Short Stature | 毛細血管擴張癥、智力發(fā)育障礙、小頭畸形、干骺端發(fā)育不良、眼部異常和身材矮小 |
| Trichohepatoenteric Syndrome 1 | 毛肝腸綜合征 1 |
| Chronic Kidney Disease | 慢性腎臟病 |
| Migraine with or Without Aura 1 | 有或無先兆的偏頭痛 1 |
| Microcephaly | 小頭畸形 |
| Norrie Disease | Norrie病 |
| Nanophthalmos | 小眼病 |
| Sickle Cell Disease | 鐮狀細胞病 |
| Tuberous Sclerosis | 結節(jié)性硬化癥 |
| Abetalipoproteinemia | 無β脂蛋白血癥 |
| Rapidly Involuting Congenital Hemangioma | 快速消退性先天性血管瘤 |
| Stroke, Ischemic | 缺血性中風 |
| Connective Tissue Disease | 結締組織病 |
| Toxic Encephalopathy | 中毒性腦病 |
| Cancer-Associated Retinopathy | 癌癥相關視網膜病變 |
| Choroiditis | 脈絡膜炎 |
| Kidney Disease | 腎臟疾病 |
| Dementia | 癡呆 |
| Intermediate Uveitis | 中間葡萄膜炎 |
| Systemic Lupus Erythematosus | 系統性紅斑狼瘡 |
| Muscular Dystrophy | 肌營養(yǎng)不良癥 |
| Ataxia with Vitamin E Deficiency | 維生素E缺乏癥伴共濟失調 |
| Gyrate Atrophy of Choroid and Retina | 脈絡膜和視網膜回狀萎縮 |
| Neurofibromatosis | 神經纖維瘤病 |
| Usher Syndrome, Type Id | Usher綜合征，Id型 |
| Mitochondrial Disease | 線粒體疾病 |
| Polyneuropathy | 多發(fā)性神經病 |
| Macular Dystrophy, Vitelliform, 3 | 黃斑營養(yǎng)不良，卵黃狀，3型 |
| End Stage Renal Disease | 終末期腎病 |
| Mild Cognitive Impairment | 輕度認知障礙 |
| Abdominal Obesity-Metabolic Syndrome 1 | 腹部肥胖-代謝綜合征1 |
| Helix Syndrome | 螺旋綜合征 |
| Myopathy | 肌病 |
| Pseudoxanthoma Elasticum | 彈性纖維假黃瘤 |
| Peripheral Nervous System Disease | 周圍神經系統疾病 |
| Sarcoidosis 1 | 結節(jié)病1 |
| Alstrom Syndrome | Alstrom綜合征 |
| Primary Pulmonary Tuberculosis | 原發(fā)性肺結核 |
| Autoimmune Uveitis | 自身免疫性葡萄膜炎 |
| Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 | 額顳葉癡呆和/或肌萎縮側索硬化癥 7 |
| Autoimmune Disease | 自身免疫性疾病 |
| Keratoconus | 圓錐角膜 |
| Sarcoidosis 2 | 結節(jié)病 2 |
| Usher Syndrome, Type if | Usher 綜合征，1 型 |
| Melanoma, Uveal | 葡萄膜黑色素瘤 |
| Syphilis | 梅毒 |
| Lipid Metabolism Disorder | 脂質代謝紊亂 |
| Pigmented Paravenous Chorioretinal Atrophy | 色素性靜脈旁脈絡膜視網膜萎縮 |
| Photoparoxysmal Response 1 | 光陣發(fā)性反應 1 |
| Hypogonadism | 性腺功能低下 |
| Protein-Deficiency Anemia | 蛋白質缺乏性貧血 |
| Usher Syndrome, Type Iic | Usher 綜合征，1ic 型 |
| Cone-Rod Dystrophy 3 | 視錐-視桿細胞營養(yǎng)不良 3 |
| Pigmented Paravenous Retinochoroidal Atrophy | 色素性靜脈旁視網膜脈絡膜萎縮 |
| Bardet-Biedl Syndrome 2 | Bardet-Biedl 綜合征 2 |
| Parkinson Disease, Late-Onset | 晚發(fā)型帕金森病 |
| Keratitis | 角膜炎 |
| Cycloplegia | 睫狀肌麻痹 |
| Aging | 衰老 |
| Meckel Syndrome, Type 1 | 梅克爾綜合征，1 型 |
| Pre-Eclampsia | 先兆子癇 |
| Acute Promyelocytic Leukemia | 急性早幼粒細胞白血病白血病 |
| Iron Metabolism Disease | 鐵代謝障礙 |
| Optic Papillitis | 視乳頭炎 |
| Hypokalemia | 低鉀血癥 |
| Autosomal Dominant Cerebellar Ataxia | 常染色體顯性遺傳小腦性共濟失調 |
| Cystic Kidney Disease | 囊性腎病 |
| Conjunctivitis | 結膜炎 |
| Trisomy X | X三體綜合征 |
| Glaucoma, Primary Closed-Angle | 原發(fā)性閉角型青光眼 |
| Marfan Syndrome | 馬凡氏綜合征 |
| Oguchi Disease | 大口病 |
| Sjogren-Larsson Syndrome | 干燥-拉爾森綜合征 |
| Keratopathy | 角膜病變 |
| Amyotrophic Lateral Sclerosis 1 | 肌萎縮側索硬化癥1 |
| Leber Congenital Amaurosis 7 | 萊伯先天性黑朦7 |
| 47,xyy Syndrome | 47,xyy綜合征 |
| Alzheimer Disease, Familial, 1 | 家族性阿爾茨海默病1 |
| Leber Congenital Amaurosis 5 | 萊伯先天性黑朦5 |
| Amed Syndrome, Digenic | 雙基因阿米德綜合征 |
| Vitreoretinochoroidopathy | 玻璃體視網膜脈絡膜病變 |
| Color Blindness | 色盲 |
| Esotropia | 內斜視 |
| Muscular Dystrophy, Duchenne Type | 杜氏肌營養(yǎng)不良癥 |
| Neurofibromatosis, Type I | I型神經纖維瘤病 |
| Exfoliation Syndrome | 剝脫性綜合征 |
| Acute Zonal Occult Outer Retinopathy | 急性區(qū)域性隱匿性外層視網膜病變 |
| Lateral Sclerosis | 側索硬化癥 |
| Degenerative Myopia | 退行性近視 |
| Coronary Artery Anomaly | 冠狀動脈畸形 |
| Down Syndrome | 唐氏綜合征 |
| Mucopolysaccharidosis-Plus Syndrome | 粘多糖沉積癥疊加綜合征 |
| Ceroid Lipofuscinosis, Neuronal, 5 | 神經性蠟樣脂褐質沉積癥 |
| Temporal Arteritis | 顳動脈炎 |
| Behcet Syndrome | 白塞氏綜合征 |
| Peroxisome Biogenesis Disorder 1b | 過氧化物酶體生物合成障礙 1b |
| Sorsby Fundus Dystrophy | 索爾斯比眼底營養(yǎng)不良癥 |
| Carney Complex Variant | 卡尼復合體變異型 |
| Rubeosis Iridis | 虹膜發(fā)紅 |
| Dilution, Pigmentary | 色素性淡化 |
| Corneal Edema | 角膜水腫 |
| Stargardt Disease 3 | 斯塔加特病 3 |
| Isolated Ectopia Lentis | 孤立性晶狀體異位 |
| Occult Macular Dystrophy | 隱匿性黃斑營養(yǎng)不良 |
| Neuronal Ceroid Lipofuscinoses | 神經元蠟樣脂褐質沉積癥 |
| Optic Nerve Hypoplasia, Bilateral | 雙側視神經發(fā)育不全 |
| Incontinentia Pigmenti | 色素失禁癥 |
| Lysosomal Storage Disease | 溶酶體貯積癥 |
| Blind Hypotensive Eye | 盲眼低眼壓癥 |
| Scleritis | 鞏膜炎 |
| Bardet-Biedl Syndrome 3 | 巴德-比德爾綜合征 3 |
| Leber Congenital Amaurosis 6 | 萊伯先天性黑朦 6 |
| Purpura | 紫癜 |
| Mckusick-Kaufman Syndrome | 麥庫西克-考夫曼綜合征 |
| Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant | 高胡蘿卜素血癥和維生素 A 缺乏癥，常染色體顯性遺傳 |
| Birdshot Chorioretinopathy | 鳥槍彈樣脈絡膜視網膜病變 |
| Bardet-Biedl Syndrome 7 | 巴德-比德爾綜合征 7 |
| Cholera | 霍亂 |
| Spondylometaphyseal Dysplasia, Axial | 脊椎干骺端軸性發(fā)育不良 |
| Bardet-Biedl Syndrome 10 | Bardet-Biedl綜合征10 |
| Leigh Disease | Leigh病 |
| Hydrocephalus | 腦積水 |
| Schizophrenia | 精神分裂癥 |
| Intracranial Hypertension | 顱內高壓 |
| Nephronophthisis 1 | 腎癆1 |
| Hypothyroidism | 甲狀腺功能減退癥 |
| Embryonal Rhabdomyosarcoma | 胚胎性橫紋肌肉瘤 |
| Cone-Rod Dystrophy 13 | 視錐-視桿細胞營養(yǎng)不良13 |
| Iridocyclitis | 虹膜睫狀體炎 |
| Usher Syndrome, Type Ig | Ig型Usher綜合征 |
| Thrombophilia Due to Thrombin Defect | 凝血酶缺陷導致的血栓形成傾向 |
| Skin Disease | 皮膚病 |
| Thrombophilia | 血栓形成傾向 |
| Alopecia | 脫發(fā) |
| Systemic Mastocytosis | 系統性肥大細胞增多癥 |
| Glaucoma 3, Primary Congenital, a | 原發(fā)性先天性青光眼3 |
| Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations | 趾畸形、遠眥畸形、肛門生殖器畸形和腎臟畸形 |
| Exotropia | 外斜視 |
| Coloboma of Optic Nerve | 視神經缺損 |
| Vitreoretinal Degeneration | 玻璃體視網膜變性 |
| Huntington Disease | 亨廷頓病 |
| Gastric Antral Vascular Ectasia | 胃竇血管擴張癥 |
| Leukemia, Acute Lymphoblastic | 急性淋巴細胞白血病 |
| Viral Infectious Disease | 病毒性傳染病 |
| Leigh Syndrome, Nuclear | Leigh綜合征核性 |
| Capillary Hemangioma | 毛細血管瘤 |
| Diffuse Idiopathic Skeletal Hyperostosis | 彌漫性特發(fā)性骨質增生 |
| Fetal Anticonvulsant Syndrome | 胎兒抗驚厥綜合征 |
| Dermatitis | 皮炎 |
| Acne | 痤瘡 |
| Nervous System Disease | 神經系統疾病 |
| Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎發(fā)育不良1型 |
| Transient Cerebral Ischemia | 短暫性腦缺血 |
| Glioma Susceptibility 1 | 膠質瘤易感性1型 |
| Body Mass Index Quantitative Trait Locus 11 | 體重指數數量性狀位點11 |
| Dermatitis, Atopic | 特應性皮炎 |
| Hinman Syndrome | 欣曼綜合征 |
| Nonsyndromic Hearing Loss | 非綜合征性聽力損失 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes | 線粒體肌病、腦病、乳酸性酸中毒和卒中樣發(fā)作 |
| Rare Genetic Deafness | 罕見遺傳性耳聾 |
| Sleep Apnea | 睡眠呼吸暫停 |
| Autosomal Dominant Optic Atrophy | 常染色體顯性視神經萎縮 |
| Albinism, Ocular, Type I | 眼白化病，I型 |
| Posterior Column Ataxia | 后柱共濟失調 |
| Ciliary Dyskinesia, Primary, 1 | 原發(fā)性纖毛運動障礙，1型 |
| Perching Syndrome | 棲息綜合征 |
| Pars Planitis | 睫狀體扁平部炎 |
| Night Blindness, Congenital Stationary, Type 2a | 夜盲癥先天性靜止型，2a 型 |
| Intraocular Lymphoma | 眼內淋巴瘤 |
| Leber Congenital Amaurosis 10 | 萊伯氏先天性黑朦 10 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 | 白癜風相關多種自身免疫性疾病易感性 6 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | 白癜風相關多種自身免疫性疾病易感性 1 |
| Attention Deficit-Hyperactivity Disorder | 注意力缺陷多動障礙 |
| Polycystic Kidney Disease | 多囊腎病 |
| Chronic Progressive External Ophthalmoplegia | 慢性進行性眼外肌麻痹 |
| Adenoma | 腺瘤 |
| B-Lymphoblastic Leukemia/lymphoma | B 淋巴細胞白血病/淋巴瘤 |
| Iritis | 虹膜炎 |
| Twin-Reversed Arterial Perfusion Sequence | 雙胎逆向動脈灌注序列 |
| Intracranial Hypertension, Idiopathic | 特發(fā)性顱內高壓 |
| Hodgkin's Lymphoma | 霍奇金淋巴瘤 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 2 | 先天性靜止型夜盲癥，常染色體顯性遺傳 2 |
| Bipolar Disorder | 雙相情感障礙 |
| Scleroderma, Familial Progressive | 硬皮病，家族性進行性 |
| Rhabdomyosarcoma 2 | 橫紋肌肉瘤 2 |
| Mevalonic Aciduria | 甲羥戊酸尿癥 |
| Cardiovascular System Disease | 心血管系統疾病 |
| Angioid Streaks | 血管樣條紋 |
| Systemic Scleroderma | 系統性硬皮病 |
| Factor Viii Deficiency | Ⅷ因子缺乏癥 |
| Orofaciodigital Syndrome I | 口面指（趾）綜合征I |
| Nephronophthisis 4 | 腎癆4 |
| Bardet-Biedl Syndrome 8 | 巴德-比德爾綜合征8 |
| Intellectual Disability and Myopathy Syndrome | 智力障礙和肌病綜合征 |
| Ocular Motor Apraxia | 眼球運動失用癥 |
| Leber Congenital Amaurosis 15 | 萊伯先天性黑朦15 |
| Vitreous Syneresis | 玻璃體收縮 |
| Body Mass Index Quantitative Trait Locus 10 | 體重指數數量性狀位點10 |
| Prediabetes Syndrome | 糖尿病前期綜合征 |
| Familial Adenomatous Polyposis | 家族性腺瘤性息肉病 |
| Corneal Disease | 角膜疾病 |
| Hypoglycemia | 低血糖癥 |
| Diabetes and Deafness, Maternally Inherited | 母系遺傳性糖尿病和耳聾 |
| Oculodentodigital Dysplasia | 眼齒指（趾）發(fā)育不良 |
| Thalassemia | 地中海貧血 |
| Laurence-Moon Syndrome | 勞倫斯-穆恩綜合征 |
| Papillomatosis, Confluent and Reticulated | 融合性網狀乳頭狀瘤病 |
| Sympathetic Ophthalmia | 交感性眼炎 |
| Body Mass Index Quantitative Trait Locus 7 | 體重指數數量性狀位點7 |
| Body Mass Index Quantitative Trait Locus 9 | 體重指數數量性狀位點9 |
| Body Mass Index Quantitative Trait Locus 4 | 體重指數數量性狀位點4 |
| Body Mass Index Quantitative Trait Locus 8 | 體質指數數量性狀位點 8 |
| Body Mass Index Quantitative Trait Locus 14 | 體質指數數量性狀位點 14 |
| Body Mass Index Quantitative Trait Locus 12 | 體質指數數量性狀位點 12 |
| Body Mass Index Quantitative Trait Locus 19 | 體質指數數量性狀位點 19 |
| Body Mass Index Quantitative Trait Locus 18 | 體質指數數量性狀位點 18 |
| Body Mass Index Quantitative Trait Locus 20 | 體質指數數量性狀位點 20 |
| Asphyxiating Thoracic Dystrophy | 窒息性胸廓營養(yǎng)不良癥 |
| Aniseikonia | 像不等視 |
| Hyperlipoproteinemia, Type Iii | III 型高脂蛋白血癥 |
| Sturge-Weber Syndrome | Sturge-Weber 綜合征 |
| Heart Disease | 心臟病 |
| Alport Syndrome | Alport 綜合征 |
| Anisometropia | 屈光參差 |
| Bardet-Biedl Syndrome 4 | Bardet-Biedl 綜合征 4 |
| Wagner Vitreoretinopathy | Wagner 玻璃體視網膜病變 |
| Ceroid Lipofuscinosis, Neuronal, 1 | 神經元型蠟樣脂褐質沉積癥 1 |
| Usher Syndrome, Type Iid | Usher 綜合征 21d 型 |
| Osteochondrodysplasia | 骨軟骨發(fā)育不良 |
| Optic Disc Pit | 視盤凹陷 |
| Pertussis | 百日咳 |
| Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 | 常染色體顯性腦動脈病，伴皮質下梗死和1型白質腦病 |
| Oculocutaneous Albinism | 眼皮膚白化病 |
| Brachydactyly | 短指癥 |
| Pheochromocytoma | 嗜鉻細胞瘤 |
| Pituitary Adenoma | 垂體腺瘤 |
| Dystonia | 肌張力障礙 |
| Depressive Disorder | 抑郁癥 |
| Autism Spectrum Disorder | 自閉癥譜系障礙 |
| Visceral Heterotaxy 5 | 內臟異位癥5 |
| Cone-Rod Dystrophy 10 | 視錐-視桿細胞營養(yǎng)不良癥10 |
| Ceroid Lipofuscinosis, Neuronal, 2 | 神經元蠟樣脂褐質沉積癥2 |
| Pik3ca-Related Overgrowth Spectrum | Pik3ca相關過度生長譜 |
| Pik3ca-Related Overgrowth Syndrome | Pik3ca相關過度生長綜合征 |
| Facioscapulohumeral Muscular Dystrophy 1 | 面肩肱型肌營養(yǎng)不良癥1 |
| Myeloid Leukemia | 髓系白血病 |
| Chronic Bilirubin Encephalopathy | 慢性膽紅素腦病 |
| Ocular Dominance | 眼優(yōu)勢畸形 |
| Polycythemia | 紅細胞增多癥 |
| Cardiomyopathy, Familial Hypertrophic, 1 | 家族性肥厚性心肌病1 |
| Leber Congenital Amaurosis 9 | 萊伯氏先天性黑朦9 |
| Ring Chromosome 1 | 環(huán)狀染色體1 |
| Iga Vasculitis | Iga血管炎 |
| Epilepsy | 癲癇 |
| Malaria | 瘧疾 |
| Homocystinuria | 同型胱氨酸尿癥 |
| Cone-Rod Dystrophy, X-Linked, 1 | X連鎖視錐桿營養(yǎng)不良癥1 |
| Leukemia, Chronic Myeloid | 慢性粒細胞白血病 |
| Chronic Myelogenous Leukemia, Bcr-Abl1 Positive | Bcr-Abl1陽性慢性粒細胞白血病 |
| Sensory Peripheral Neuropathy | 感覺性周圍神經病變 |
| Graves Ophthalmopathy | 格雷夫斯眼病 |
| Bardet-Biedl Syndrome 6 | 巴德-比德爾綜合征6 |
| Major Depressive Disorder | 重度抑郁癥 |
| Congenital Disorder of Glycosylation, Type Ia | 先天性糖基化障礙Ia型 |
| Parkinsonism | 帕金森病 |
| Polydactyly, Postaxial, Type A1 | A1型軸后性多指畸形 |
| Weber Syndrome | 韋伯綜合征 |
| Visual Impairment and Progressive Phthisis Bulbi | 視力障礙和進行性眼結核 |
| Allergic Disease | 過敏性疾病 |
| Ataxia-Telangiectasia | 共濟失調-毛細血管擴張癥 |
| B-Cell Lymphoma | B細胞淋巴瘤 |
| Movement Disease | 運動疾病 |
| Central Nervous System Disease | 中樞神經系統疾病 |
| Mcleod Syndrome | 麥克勞德綜合征 |
| Spastic Paraplegia, Ataxia, and Impaired Intellectual Development | 痙攣性截癱、共濟失調和智力發(fā)育障礙 |
| Mitochondrial Myopathy | 線粒體肌病 |
| Chronic Granulomatous Disease | 慢性肉芽腫性疾病 |
| Hereditary Spastic Paraplegia | 遺傳性痙攣性截癱 |
| Myeloperoxidase Deficiency | 髓過氧化物酶缺乏癥 |
| Melanoma Associated Retinopathy | 黑色素瘤相關視網膜病變 |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl 綜合征 5 |
| Heimler Syndrome 1 | Heimler 綜合征 1 |
| Rubella | 風疹 |
| Leukemia, Acute Myeloid | 急性髓系白血病 |
| Polyarteritis Nodosa | 結節(jié)性多動脈炎 |
| Ceroid Lipofuscinosis, Neuronal, 6a | 神經元蠟樣脂褐質沉積癥 6a |
| Glomerulonephritis | 腎小球腎炎 |
| Aceruloplasminemia | 銅藍蛋白缺乏癥 |
| Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay | 伴有 B 細胞免疫缺陷、周期性發(fā)熱和發(fā)育遲緩的鐵粒幼細胞性貧血 |
| Chorioretinal Atrophy, Progressive Bifocal | 進行性雙焦脈絡膜視網膜萎縮 |
| Fryns Microphthalmia Syndrome | Fryns 小眼畸形綜合征 |
| Friedreich Ataxia | Friedreich 共濟失調 |
| Insulin-Like Growth Factor I | 胰島素樣生長因子 I |
| Lactic Acidosis | 乳酸性酸中毒 |
| Arteritic Anterior Ischemic Optic Neuropathy | 動脈炎性前部缺血性視神經病變 |
| Scoliosis | 脊柱側彎 |
| Learning Disability | 學習障礙 |
| Aniridia | 無虹膜 |
| Paraplegia | 截癱 |
| Bardet-Biedl Syndrome 12 | Bardet-Biedl 綜合征 12 |
| Breast Cancer | 乳腺癌 |
| West Syndrome | West 綜合征 |
| Vitreoretinal Degeneration, Snowflake Type | 雪花狀玻璃體視網膜變性類型 |
| Sjogren Syndrome | 干燥綜合征 |
| Mitochondrial Encephalomyopathy | 線粒體腦肌病 |
| Skin Melanoma | 皮膚黑色素瘤 |
| Eclampsia | 子癇 |
| Necrotizing Vasculitis | 壞死性血管炎 |
| Corneal Dystrophy | 角膜營養(yǎng)不良 |
| Blue Cone Monochromacy | 藍錐單色性視神經病 |
| Cone-Rod Dystrophy 12 | 視錐-視桿細胞營養(yǎng)不良12型 |
| Lung Cancer | 肺癌 |
| Polykaryocytosis Inducer | 多核細胞增多癥誘導物 |
| Mucopolysaccharidosis, Type Iiic | 粘多糖貯積癥，II型 |
| Multiple Evanescent White Dot Syndrome | 多發(fā)性一過性白點綜合征 |
| Fuchs' Heterochromic Uveitis | ?？怂巩惿云咸涯ぱ?/td> |
| Severe Combined Immunodeficiency | 嚴重聯合免疫缺陷 |
| Acute Closed-Angle Glaucoma | 急性閉角型青光眼 |
| Histoplasmosis | 組織胞漿菌病 |
| Frontotemporal Dementia 1 | 額顳葉癡呆1型 |
| Congenital Nystagmus | 先天性眼球震顫 |
| Dry Eye Syndrome | 干眼綜合征 |
| Leukemia, Acute Lymphoblastic 3 | 急性淋巴細胞白血病3型 |
| Wagner Disease | 瓦格納病 |
| Proteasome-Associated Autoinflammatory Syndrome 1 | 蛋白酶體相關自身炎癥綜合征1型 |
| X-Linked Congenital Stationary Night Blindness | X連鎖先天性靜止性夜盲癥 |
| Coloboma of Iris | 虹膜缺損 |
| Night Blindness, Congenital Stationary, Type1i | 夜盲癥先天性靜止型，1i 型 |
| Deafness, Autosomal Recessive 2 | 耳聾，常染色體隱性遺傳 2 |
| Lens Subluxation | 晶狀體半脫位 |
| 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 | 瘦素缺乏或功能障礙 |
| Exudative Vitreoretinopathy 2, X-Linked | 滲出性玻璃體視網膜病變 2，X 連鎖 |
| Atrial Standstill 1 | 心房停頓 1 |
| Leigh Syndrome, Mitochondrial | Leigh 綜合征，線粒體型 |
| Papillorenal Syndrome | 乳頭腎綜合征 |
| Familial Hyperlipidemia | 家族性高脂血癥 |
| Nephrotic Syndrome | 腎病綜合征 |
| Toxocariasis | 弓蛔蟲病 |
| Acute Posterior Multifocal Placoid Pigment Epitheliopathy | 急性后部多灶性斑塊狀色素上皮病 |
| Leber Congenital Amaurosis 11 | Leber 先天性黑朦 11 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 | 伴有線粒體 DNA 缺失的進行性外眼肌麻痹，常染色體顯性遺傳 1 |
| Fabry Disease | 法布里病 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly | 多核神經元、羊水缺乏、腎發(fā)育不良、小腦發(fā)育不全和腦積水畸形 |
| Body Mass Index Quantitative Trait Locus 1 | 體重指數數量性狀位點 1 |
| Leukocoria | 白瞳癥 |
| Anterior Segment Dysgenesis | 眼前節(jié)發(fā)育不全 |
| Cataract-Glaucoma Syndrome | 白內障-青光眼綜合征 |
| Autonomic Neuropathy | 自主神經病變 |
| Ocular Tuberculosis | 眼結核病 |
| Charge Syndrome | Charge 綜合征 |
| Leukodystrophy | 白質營養(yǎng)不良 |
| Ocular Pigment Dispersion with or Without Glaucoma | 伴或不伴青光眼的眼色素沉著癥 |
| Respiratory Failure | 呼吸衰竭 |
| Senile Cataract | 老年性白內障 |
| Maturity-Onset Diabetes of the Young, Type 1 | 1 型成年型糖尿病 |
| Androgen Insensitivity Syndrome | 雄激素不敏感綜合征 |
| Spinocerebellar Ataxia 2 | 2 型脊髓小腦性共濟失調 |
| Basal Laminar Drusen | 基底層視網膜黃斑硬化癥 |
| Ring Chromosome 2 | 2 型環(huán)狀染色體 |
| Autosomal Dominant Polycystic Kidney Disease | 常染色體顯性多囊腎病 |
| Aplastic Anemia | 再生障礙性貧血 |
| Papillon-Lefevre Syndrome | Papillon-Lefevre 綜合征 |
| Zellweger Spectrum Disorder | Zellweger 譜系障礙 |
| Dilated Cardiomyopathy | 擴張型心肌病 |
| Stickler Syndrome, Type I | I 型斯蒂克勒綜合征 |
| Vascular Dementia | 血管性癡呆 |
| Teratoma | 畸胎瘤 |
| Mucopolysaccharidosis Iii | III 型粘多糖貯積癥 |
| Arima Syndrome | Arima 綜合征 |
| Myeloma, Multiple | 骨髓瘤多發(fā)性 |
| Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects | 先天性偏側發(fā)育不良伴魚鱗病樣紅皮病和肢體缺陷 |
| Measles | 麻疹 |
| Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly | 短肋胸廓發(fā)育不良（5型，伴或不伴多指畸形） |
| Keratoconjunctivitis | 角膜結膜炎 |
| Joubert Syndrome 9 | Joubert綜合征（9型） |
| Aland Island Eye Disease | 奧蘭島眼病 |
| Autism | 自閉癥 |
| Macular Degeneration, Age-Related, 2 | 老年性黃斑變性（2型） |
| Hyperinsulinism | 高胰島素血癥 |
| Senior-Loken Syndrome 4 | 老年-洛肯綜合征（4型） |
| Early Myoclonic Encephalopathy | 早期肌陣攣性腦病 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 | 先天性靜止性夜盲癥（常染色體顯性遺傳） |
| Cranioectodermal Dysplasia | 顱外胚層發(fā)育不良 |
| Muscular Atrophy | 肌肉萎縮 |
| Ichthyosis | 魚鱗病 |
| Bardet-Biedl Syndrome 9 | Bardet-Biedl綜合征（9型） |
| Hypertelorism | 眼距過寬 |
| Anxiety | 焦慮癥 |
| Dyskeratosis Congenita | 先天性角化不良 |
| Butterfly-Shaped Pigment Dystrophy | 蝴蝶狀色素營養(yǎng)不良 |
| Overgrowth Syndrome | 過度生長綜合征 |
| Deafness, Autosomal Recessive 12 | 常染色體隱性耳聾12 |
| Myeloproliferative Neoplasm | 骨髓增生性腫瘤 |
| Pneumocystosis | 肺囊蟲病 |
| Hypereosinophilic Syndrome | 嗜酸細胞增多癥 |
| Diarrhea | 腹瀉 |
| Bronchiectasis | 支氣管擴張 |
| Muscle-Eye-Brain Disease | 肌-眼-腦疾病 |
| Impotence | 陽痿 |
| Newfoundland Rod-Cone Dystrophy | 紐芬蘭桿-桿營養(yǎng)不良癥 |
| Acute Kidney Failure | 急性腎衰竭 |
| Wolfram Syndrome 1 | 沃爾夫勒姆綜合征1 |
| Colorectal Cancer | 結直腸癌 |
| Charcot-Marie-Tooth Disease | 夏科-馬里-圖斯病 |
| Cone-Rod Dystrophy, X-Linked, 3 | X連鎖錐-桿營養(yǎng)不良癥3 |
| Acute Retrobulbar Neuritis | 急性球后神經炎 |
| Myocardial Infarction | 心肌梗死 |
| Infertility | 不孕癥 |
| Cleft Palate, Isolated | 孤立性腭裂 |
| Cone-Rod Dystrophy 5 | 錐-桿營養(yǎng)不良癥5 |
| Hereditary Sensory Neuropathy | 遺傳性感覺神經病 |
| Neutropenia | 中性粒細胞減少癥 |
| Meningioma | 腦膜瘤 |
| Wilson Disease | 威爾遜病 |
| Secondary Progressive Multiple Sclerosis | 繼發(fā)性進行性多發(fā)性硬化癥 |
| Hemophilia | 血友病 |
| Complete Androgen Insensitivity Syndrome | 完全性雄激素不敏感綜合征 |
| Malignant Hypertension | 惡性高血壓 |
| Thrombocytopenia | 血小板減少癥 |
| Cellulitis | 蜂窩織炎 |
| Traumatic Brain Injury | 腦外傷損傷 |
| Nutritional Deficiency Disease | 營養(yǎng)缺乏癥 |
| Male Infertility | 男性不育癥 |
| Ectodermal Dysplasia | 外胚層發(fā)育不良 |
| Juvenile Rheumatoid Arthritis | 幼年型類風濕性關節(jié)炎 |
| Mucolipidosis | 粘脂沉積癥 |
| Infantile Neuronal Ceroid Lipofuscinosis | 嬰兒神經元蠟樣脂褐質沉積癥 |
| Cerebellar Atrophy, Developmental Delay, and Seizures | 小腦萎縮、發(fā)育遲緩和癲癇 |
| Congenital Toxoplasmosis | 先天性弓形蟲病 |
| Hepatitis C | 丙型肝炎 |
| Peroxisomal Disease | 過氧化物酶體病 |
| Myotonic Dystrophy | 強直性肌營養(yǎng)不良癥 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 | 進行性外眼肌麻痹伴線粒體DNA缺失，常染色體隱性遺傳1 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 | 進行性外眼肌麻痹伴線粒體DNA缺失，常染色體顯性遺傳4 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 | 進行性外眼肌麻痹伴線粒體DNA缺失，常染色體顯性遺傳2 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 | 進行性外眼肌麻痹伴線粒體DNA缺失，常染色體顯性遺傳3 |
| Macs Syndrome | Macs綜合征 |
| Primary Congenital Glaucoma | 原發(fā)性先天性青光眼 |
| Joubert Syndrome 5 | Joubert綜合征5 |
| Albinism, Oculocutaneous, Type Ii | 眼皮膚白化病，II型 |
| Agammaglobulinemia, X-Linked | X連鎖無丙種球蛋白血癥 |
| Primary Hyperaldosteronism | 原發(fā)性醛固酮增多癥 |
| Congenital Disorder of Glycosylation, Type in | 先天性糖基化障礙，II型 |
| Malignant Choroid Melanoma | 惡性脈絡膜黑色素瘤 |
| Scheie Syndrome | Scheie綜合征 |
| Syndactyly | 并指畸形 |
| Galactosemia | 半乳糖血癥 |
| Hemoglobinopathy | 血紅蛋白病 |
| Graves Disease | Graves病 |
| Arthrogryposis, Renal Dysfunction, and Cholestasis 1 | 關節(jié)攣縮、腎功能障礙和膽汁淤積癥1型 |
| Kaposi Sarcoma | 卡波西肉瘤 |
| Vitamin K Deficiency Bleeding | 維生素K缺乏性出血 |
| Trichohepatoenteric Syndrome | 毛肝腸綜合征 |
| Ceroid Lipofuscinosis, Neuronal, 7 | 神經元蠟樣脂褐質沉積癥7型 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | 長鏈3-羥?；o酶A脫氫酶缺乏癥 |
| Craniosynostosis | 顱縫早閉 |
| Myotonic Dystrophy 1 | 肌強直性營養(yǎng)不良癥1型 |
| Hydrocephalus, Congenital, 1 | 先天性腦積水1型 |
| Mucopolysaccharidosis, Type Ii | 粘多糖貯積癥1型IIi型 |
| Beta-Thalassemia | β-地中海貧血 |
| Usher Syndrome, Type Iv | Usher綜合征IV型 |
| Granulomatosis with Polyangiitis | 肉芽腫性多血管炎 |
| Alcohol Use Disorder | 酒精使用障礙 |
| Usher Syndrome, Type Ij | Usher綜合征Ij型 |
| Choroidal Osteoma | 脈絡膜骨瘤 |
| Rickets | 佝僂病 |
| Polycythemia Vera | 真性紅細胞增多癥 |
| Mucolipidosis Iii Gamma | 粘脂病III型γ型 |
| Anhidrosis | 無汗癥 |
| Stargardt Disease 4 | Stargardt病4型 |
| Severe Covid-19 | 重癥新冠肺炎 |
| Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome | 血管炎、自身炎癥、免疫缺陷和血液系統缺陷綜合征 |
| Orofaciodigital Syndrome | 口面指綜合征 |
| Metabolic Dysfunction-Associated Steatotic Liver Disease | 代謝功能障礙相關脂肪性肝病 |
| Neu-Laxova Syndrome 1 | Neu-Laxova綜合征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 | 骨質疏松癥 |
| Siderosis | 鐵質沉著癥 |
| Alcohol Dependence | 酒精依賴 |
| Tietz Albinism-Deafness Syndrome | Tietz白化病-耳聾綜合征 |
| Lissencephaly | 無腦畸形 |
| Achromatopsia 3 | 全色盲3例 |
| Hepatitis | 肝炎 |
| Glioma | 神經膠質瘤 |
| 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脂蛋白血癥1例 |
| Catastrophic Antiphospholipid Syndrome | 災難性抗磷脂綜合征 |
| Dementia, Lewy Body | 路易體癡呆 |
| Hypopituitarism | 垂體功能低下 |
| Immunodeficiency, Common Variable, 10 | 共同變量免疫缺陷10例 |
| Neurofibroma | 神經纖維瘤 |
| Severe Pre-Eclampsia | 重度先兆子癇 |
| Mature Cataract | 成熟性白內障 |
| Meningioma, Familial | 家族性腦膜瘤 |
| Spastic Ataxia | 痙攣性共濟失調 |
| Hematologic Cancer | 血液系統癌癥 |
| Cerebral Palsy | 腦癱 |
| Agammaglobulinemia | 無丙種球蛋白血癥 |
| Hemolytic-Uremic Syndrome | 溶血性尿毒癥綜合征 |
| Wolfram Syndrome | Wolfram綜合征 |
| Crohn's Disease | 克羅恩病 |
| Glucose Intolerance | 葡萄糖不耐受 |
| Myoclonic Epilepsy Associated with Ragged-Red Fibers | 與破碎紅纖維相關的肌陣攣性癲癇 |
| Maternally-Inherited Leigh Syndrome | 母系遺傳的Leigh綜合征 |
| Cerebral Visual Impairment | 腦視覺損傷 |
| Neuroblastoma | 神經母細胞瘤 |
| Primary Pulmonary Vein Stenosis | 原發(fā)性肺靜脈狹窄 |
| Corneal Neovascularization | 角膜新生血管 |
| Small Cell Cancer of the Lung | 肺癌 |
| Isolated Macular Dystrophy | 孤立性黃斑營養(yǎng)不良 |
| Graft-Versus-Host Disease | 移植物抗宿主病 |
| Pigmentation Anomaly of the Skin | 皮膚色素沉著異常 |
| Psoriasis 1 | 銀屑病1 |
| Liver Disease | 肝病 |
| Central Diabetes Insipidus | 中樞性尿崩癥 |
| Oguchi Disease 1 | 大口病1 |
| Pituitary Tumor | 垂體瘤 |
| Gastrointestinal System Disease | 胃腸系統疾病 |
| Diabetes Insipidus | 尿崩癥 |
| Multiple Pterygium Syndrome, Escobar Variant | 多發(fā)性翼狀胬肉綜合征（埃斯科巴變異型） |
| Diabetes Mellitus, Ketosis-Prone | 糖尿?。ㄍY傾向） |
| Presbyopia | 老花眼 |
| Myelodysplastic Syndrome | 骨髓增生異常綜合征 |
| Demyelinating Polyneuropathy | 脫髓鞘性多發(fā)性神經病 |
| Ceroid Lipofuscinosis, Neuronal, 11 | 蠟樣脂褐質沉積癥（神經元型） |
| Thrombocytosis | 血小板增多癥 |
| Ocular Cancer | 眼癌 |
| Psoriasis 7 | 銀屑病7 |
| Psoriasis 2 | 銀屑病2 |
| Psoriasis 11 | 銀屑病11 |
| Psoriasis 13 | 銀屑病13 |
| Vascular Cancer | 血管性癌癥 |
| Congestive Heart Failure | 充血性心力衰竭 |
| Serpiginous Choroiditis | 匐行性脈絡膜炎 |
| T-Cell Acute Lymphoblastic Leukemia | T細胞急性淋巴細胞白血病 |
| Psychotic Disorder | 精神病性障礙 |
| Hemolytic Uremic Syndrome, Atypical 1 | 非典型溶血性尿毒癥綜合征1 |
| Muscular Dystrophy-Dystroglycanopathy , Type a, 3 | 肌營養(yǎng)不良癥-肌營養(yǎng)不良蛋白病a型3 |
| Spinal Cord Disease | 脊髓疾病 |
| Inherited Cancer-Predisposing Syndrome | 遺傳性癌癥易感綜合征 |
| Neurodegeneration with Brain Iron Accumulation | 伴有腦鐵沉積的神經變性 |
| Primary Hyperoxaluria | 原發(fā)性高草酸尿癥 |
| Auditory Neuropathy and Optic Atrophy | 聽覺神經病變和視神經萎縮 |
| Cold-Induced Sweating Syndrome 3 | 冷誘發(fā)性出汗綜合征3 |
| Choroidal Dystrophy, Central Areolar 2 | 中央乳暈脈絡膜營養(yǎng)不良2 |
| Familial Mediterranean Fever | 家族性地中海熱 |
| Corneal Dystrophy, Band-Shaped | 帶狀角膜營養(yǎng)不良 |
| Premature Aging | 過早衰老 |
| Candidiasis | 念珠菌病 |
| Hypogonadotropic Hypogonadism | 促性腺激素性性腺功能減退癥 |
| Cerebellar Hypoplasia | 小腦發(fā)育不全 |
| Onchocerciasis | 盤尾絲蟲病 |
| Hemophilia a | 血友病a |
| Leukemia, Chronic Lymphocytic | 慢性淋巴細胞白血病 |
| Mast Cell Neoplasm | 肥大細胞腫瘤 |
| Orbital Cellulitis | 眼眶蜂窩織炎 |
| Multiple System Atrophy | 多系統萎縮 |
| Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus | 類似黃斑眼底的多灶性營養(yǎng)不良 |
| Boucher-Neuhauser Syndrome | Boucher-Neuhauser綜合征 |
| Acute Myeloid Leukemia with Maturation | 伴成熟的急性髓系白血病 |
| Pancytopenia | 全血細胞減少癥 |
| Cryopyrin-Associated Periodic Syndrome | 冷熱蛋白相關周期性綜合征 |
| Night Blindness, Congenital Stationary, Type 1e | 先天性靜止性夜盲癥，1e型 |
| Congenital Muscular Dystrophy | 先天性肌營養(yǎng)不良癥 |
| Meningoencephalitis | 腦膜腦炎 |
| Peroxisome Biogenesis Disorder 1a | 過氧化物酶體生物合成障礙1a |
| Neurodegeneration with Brain Iron Accumulation 2a | 伴腦鐵累積的神經退行性疾病2a |
| Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor | 全面發(fā)育遲緩、肺囊腫、過度生長和腎母細胞瘤 |
| Chronic Closed-Angle Glaucoma | 慢性閉角型青光眼 |
| Ring Chromosome 3 | 環(huán)狀染色體3 |
| Steatotic Liver Disease | 脂肪性肝病 |
| Bone Mineral Density Quantitative Trait Locus 15 | 骨礦物質密度數量性狀基因座15 |
| Bullous Keratopathy | 大皰性角膜病變 |
| Sleep Disorder | 睡眠障礙 |
| Methylmalonic Acidemia | 甲基丙二酸血癥 |
| Gastrointestinal Stromal Tumor | 胃腸道基質腫瘤 |
| Lymphoplasmacytic Lymphoma | 淋巴漿細胞性淋巴瘤 |
| Cranioectodermal Dysplasia 4 | 顱外胚層發(fā)育不良4型 |
| Cerebrofacial Arteriovenous Metameric Syndrome | 腦面部動靜脈同分異構體綜合征 |
| Distal Arthrogryposis | 遠端關節(jié)彎曲癥 |
| Bronchopulmonary Dysplasia | 支氣管肺發(fā)育不良 |
| Pneumonia | 肺炎 |
| Peters-Plus Syndrome | Peters-Plus綜合征 |
| Bone Mineral Density Quantitative Trait Locus 8 | 骨礦物質密度數量性狀位點8 |
| Acromegaly | 肢端肥大癥 |
| Hypogonadotropic Hypogonadism 7 with or Without Anosmia | 伴或不伴嗅覺喪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發(fā)育不良 |
| Mucormycosis | 毛霉菌病 |
| Capillary Malformations, Congenital | 先天性毛細血管畸形 |
| Zellweger Syndrome | 澤爾韋格綜合征 |
| Lysosomal Disease | 溶酶體疾病 |
| Skin Carcinoma | 皮膚癌 |
| Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease | 伴或不伴多囊肝的多囊腎病1型 |
| Small Cell Carcinoma | 小細胞癌 |
| Macular Dystrophy, Vitelliform, 4 | 卵黃狀黃斑營養(yǎng)不良4型 |
| Meningitis | 腦膜炎 |
| Keratosis | 角化病 |
| Polycystic Ovary Syndrome | 多囊卵巢綜合征 |
| Senior-Loken Syndrome 5 | Senior-Loken綜合征 5 |
| Epidermolysis Bullosa, Junctional 2c, Laryngoonychocutaneous | 交界性大皰性表皮松解癥 2c，喉甲皮膚 |
| Cranioectodermal Dysplasia 1 | 顱外胚層發(fā)育不良 1 |
| Foster-Kennedy Syndrome | Foster-Kennedy綜合征 |
| Patent Ductus Arteriosus | 動脈導管未閉 |
| Ceroid Lipofuscinosis, Neuronal, 10 | 神經元蠟樣脂褐質沉積癥 10 |
| Hypotrichosis, Congenital, with Juvenile Macular Dystrophy | 先天性少毛癥伴青少年黃斑營養(yǎng)不良 |
| Macular Dystrophy, Vitelliform, 5 | 卵黃狀黃斑營養(yǎng)不良 5 |
| Renal Cell Carcinoma, Nonpapillary | 非乳頭狀腎細胞癌 |
| Microphthalmia/coloboma 12 | 小眼畸形/缺損 12 |
| Cone-Rod Dystrophy and Hearing Loss 1 | 視錐-視桿細胞營養(yǎng)不良和聽力損失 1 |
| Basal Cell Carcinoma | 基底細胞癌 |
| Nephronophthisis 3 | 腎癆 3 |
| Atypical Hemolytic-Uremic Syndrome | 非典型溶血性尿毒癥綜合征 |
| Stomatitis | 口腔炎 |
| Isolated Encephalocele | 孤立性腦膨出 |
| Aica-Ribosiduria Due to Atic Deficiency | Aica-因呼吸功能障礙引起的核糖苷尿癥 |
| Cryptorchidism, Unilateral or Bilateral | 單側或雙側隱睪雙側 |
| Sveinsson Chorioretinal Atrophy | Sveinsson脈絡膜視網膜萎縮 |
| Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎發(fā)育不良3型 |
| Apraxia | 失用癥 |
| Smith-Lemli-Opitz Syndrome | Smith-Lemli-Opitz綜合征 |
| Hypotrichosis | 少毛癥 |
| Celiac Disease | 乳糜瀉 |
| Tritanopia | 藍色盲 |
| Cystic Fibrosis | 囊性纖維化 |
| Neurilemmoma | 神經鞘瘤 |
| Duane Retraction Syndrome 1 | 杜安眼球退縮綜合征1 |
| Osteoporosis-Pseudoglioma Syndrome | 骨質疏松癥-假性神經膠質瘤綜合征 |
| Exudative Vitreoretinopathy 6 | 滲出性玻璃體視網膜病變6 |
| Cold-Induced Sweating Syndrome | 冷誘發(fā)性出汗綜合征 |
| Alopecia Areata | 斑禿 |
| Motor Neuron Disease | 運動神經元病 |
| Progressive Supranuclear Palsy | 進行性核上性麻痹 |
| Lyme Disease | 萊姆病 |
| Choreatic Disease | 舞蹈病 |
| Bornholm Eye Disease | 博恩霍爾姆眼病 |
| Brittle Cornea Syndrome 1 | 脆性角膜綜合征1 |
| Xeroderma Pigmentosum, Variant Type | 色素性干皮?。ㄗ儺愋停?/td> |
| Bradyopsia | 視遲鈍 |
| Trichomegaly | 毛發(fā)增多癥 |
| Ring Chromosome 5 | 5號環(huán)狀染色體異常 |
| Psoriasis | 銀屑病 |
| Osteogenic Sarcoma | 成骨性肉瘤 |
| Isolated Optic Neuritis | 孤立性視神經炎 |
| Neurodevelopmental Disorder with Visual Defects and Brain Anomalies | 伴有視覺缺陷和腦異常的神經發(fā)育障礙 |
| Neuromuscular Disease | 神經肌肉疾病 |
| Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome | 先天性鐵粒幼細胞貧血-B細胞免疫缺陷-周期性發(fā)熱-發(fā)育遲緩綜合征 |
| Cortical Blindness | 皮質性盲 |
| Bardet-Biedl Syndrome 14 | Bardet-Biedl綜合征14 |
| Hyperlipoproteinemia, Type I | I型高脂蛋白血癥 |
| Noonan Syndrome 1 | Noonan綜合征1 |
| Pulmonary Hypertension, Primary, 1 | 原發(fā)性肺動脈高壓1 |
| Bardet-Biedl Syndrome 22 | Bardet-Biedl綜合征22 |
| Anorexia Nervosa | 神經性厭食癥 |
| Primary Ovarian Insufficiency | 原發(fā)性卵巢功能不全 |
| Machado-Joseph Disease | Machado-Joseph病 |
| Lymphopenia | 淋巴細胞減少癥 |
| Blepharitis | 瞼緣炎 |
| C Syndrome | C綜合征 |
| Nanophthalmos 2 | 小眼球2 |
| Facial Hemiatrophy | 面部半萎縮 |
| Refractive Amblyopia | 屈光性弱視 |
| Gaucher's Disease | 戈謝病 |
| Seasonal Affective Disorder | 季節(jié)性情感障礙 |
| Self-Limited Epilepsy with Centrotemporal Spikes | 伴中央顳葉棘波的自限性癲癇 |
| Mitochondrial Complex V Deficiency, Mitochondrial Type 1 | 線粒體復合物V缺乏癥，1型 |
| Homocarnosinosis | 同型肌瘤病 |
| Joubert Syndrome 10 | Joubert綜合征10 |
| Myoclonic Epilepsy of Unverricht and Lundborg | Unverricht和Lundborg肌陣攣性癲癇 |
| Progressive Myoclonus Epilepsy | 進行性肌陣攣癲癇 |
| Tertiary Neurosyphilis | 三期神經梅毒 |
| Amenorrhea | 閉經 |
| Pseudopapilledema | 假性視乳頭水腫 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 | 線粒體復合物I缺乏癥，核型1 |
| Auditory Neuropathy | 聽覺神經病變 |
| Nail Disorder, Nonsyndromic Congenital, 9 | 非綜合征性先天性指甲病變，9 |
| Retinopathy, Pericentral Pigmentary, Dominant | 視網膜病變，中央周圍色素性，顯性遺傳 |
| Keratoconjunctivitis Sicca | 干燥性角結膜炎 |
| 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綜合征 |
| Aortic Valve Disease 2 | 主動脈瓣病變2 |
| Methylmalonic Aciduria and Homocystinuria | 甲基丙二酸尿癥和同型胱氨酸尿癥 |
| Progressive Non-Infectious Anterior Vertebral Fusion | 進行性非感染性前椎融合術 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome | 甲狀旁腺功能減退癥-發(fā)育遲緩-畸形綜合征 |
| Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly | 伴或不伴多指畸形的短肋胸椎發(fā)育不良10 |
| Argyria | 銀質沉著癥 |
| Bilateral Retinoblastoma | 雙側視網膜母細胞瘤 |
| Gaucher Disease, Type I | 戈謝病，1型 |
| Acute Myocardial Infarction | 急性心肌梗死梗死 |
| Crisponi/cold-Induced Sweating Syndrome 1 | Crisponi/冷誘發(fā)出汗綜合征 1 |
| Acanthosis Nigricans | 黑棘皮癥 |
| Bardet-Biedl Syndrome 18 | Bardet-Biedl 綜合征 18 |
| Cone-Rod Dystrophy and Hearing Loss 2 | 視錐-視桿細胞營養(yǎng)不良和聽力損失 2 |
| Age-Related Hearing Loss | 年齡相關性聽力損失 |
| Cholestasis | 膽汁淤積 |
| Gardner Syndrome | Gardner 綜合征 |
| Heart Septal Defect | 心臟間隔缺損 |
| Bardet-Biedl Syndrome 17 | Bardet-Biedl 綜合征 17 |
| Wilms Tumor 1 | Wilms 腫瘤 1 |
| Axonal Neuropathy | 軸突性神經病變 |
| Common Variable Immunodeficiency | 常見變異性免疫缺陷 |
| Glucosephosphate Dehydrogenase Deficiency | 葡萄糖磷酸脫氫酶缺乏癥 |
| Senior-Loken Syndrome 8 | Senior-Loken 綜合征 8 |
| Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) | 伴骨髓嗜酸性粒細胞異常的急性髓系白血病 Inv(16)(p13q22) 或 T(16;16)(p13;q22) |
| Spinocerebellar Ataxia 1 | 脊髓小腦共濟失調 1 |
| Nijmegen Breakage Syndrome | Nijmegen 斷裂綜合征 |
| Factor Vii Deficiency | 因子 VII 缺乏癥 |
| Macular Dystrophy, Vitelliform, 1 | 黃斑卵黃樣營養(yǎng)不良癥 1 |
| Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome | 外胚層發(fā)育不良、缺指畸形和黃斑營養(yǎng)不良綜合征 |
| Combined Immunodeficiency | 聯合免疫缺陷 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | 硫胺素反應性巨幼細胞性貧血綜合征 |
| Common Cold | 普通感冒 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 | 線粒體復合物 IV 缺乏癥，核型 1 |
| Basal Cell Carcinoma 1 | 基底細胞癌 1 |
| Nonsyndromic Genetic Hyperinsulinism | 非綜合征性遺傳性高胰島素血癥 |
| Sideroblastic Anemia | 鐵粒幼細胞貧血 |
| Papilloma | 乳頭狀瘤 |
| Brittle Bone Disorder | 脆骨癥 |
| Arts Syndrome | 阿茨綜合征 |
| Oligocone Trichromacy | 少錐三色性視 |
| Hemolytic Anemia | 溶血性貧血 |
| Twinning, Dizygotic | 異卵雙胞胎 |
| Congenital Rubella Syndrome | 先天性風疹綜合征 |
| Corneal Endothelial Dystrophy | 角膜內皮營養(yǎng)不良 |
| Alagille Syndrome 1 | 阿拉吉爾綜合征 1 |
| Palmoplantar Keratosis | 掌跖角化病 |
| Migraine Without Aura | 無先兆偏頭痛 |
| Basal Cell Nevus Syndrome 1 | 基底細胞痣綜合征 1 |
| Mood Disorder | 情緒障礙 |
| Iga Glomerulonephritis | 免疫球蛋白血癥（IGA）腎小球腎炎 |
| Joubert Syndrome 3 | Joubert 綜合征3 |
| Meckel Syndrome, Type 4 | 梅克爾綜合征，4型 |
| Iron Overload | 鐵超負荷 |
| Pick Disease of Brain | 腦皮克病 |
| Inflammatory Bowel Disease 1 | 炎癥性腸病1 |
| Non-Syndromic Genetic Deafness | 無綜合征性遺傳性耳聾 |
| Alport Syndrome 2, Autosomal Recessive | 常染色體隱性遺傳的阿爾波特綜合征2 |
| Cone-Rod Dystrophy 11 | 視錐-視桿營養(yǎng)不良11 |
| Dermatomyositis | 皮肌炎 |
| Scrapie | 羊癢病 |
| Hypotrichosis 7 | 少毛癥7 |
| Autosomal Recessive Alport Syndrome | 常染色體隱性遺傳的阿爾波特綜合征 |
| Christian Syndrome | 克里斯蒂安綜合征 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency | 3-羥?；o酶A脫氫酶缺乏癥 |
| Deafness, Autosomal Recessive 31 | 常染色體隱性遺傳的耳聾31 |
| Metabolic Acidosis | 代謝性酸中毒 |
| Bell's Palsy | 貝爾氏麻痹 |
| Aortic Valve Disease 1 | 主動脈瓣膜病1 |
| Meniere Disease | 梅尼埃病 |
| Bardet-Biedl Syndrome 13 | 巴德-比德爾綜合征13 |
| Bardet-Biedl Syndrome 21 | 巴德-比德爾綜合征21 |
| Focal Segmental Glomerulosclerosis | 局灶節(jié)段性腎小球硬化癥 |
| Myelofibrosis | 骨髓纖維化 |
| Neural Tube Defects | 神經管缺陷 |
| Renal Cell Carcinoma | 腎細胞癌 |
| Deafness, Autosomal Recessive 18a | 常染色體遺傳性耳聾隱性18a |
| Thyroiditis | 甲狀腺炎 |
| Blepharophimosis | 瞼裂狹小癥 |
| Cryoglobulinemia | 冷球蛋白血癥 |
| Opitz Gbbb Syndrome | Opitz-Gbbb綜合征 |
| Bardet-Biedl Syndrome 20 | Bardet-Biedl綜合征20 |
| Angioedema | 血管性水腫 |
| Aortic Valve Insufficiency | 主動脈瓣關閉不全 |
| Usher Syndrome, Type Ik | Usher綜合征，Ik型 |
| Arthrogryposis Syndrome | 關節(jié)彎曲綜合征 |
| Portal Hypertension | 門靜脈高壓 |
| Kidney Cancer | 腎癌 |
| Methylmalonic Aciduria and Homocystinuria, Cblc Type | 甲基丙二酸尿癥和高胱氨酸尿癥，Cblc型 |
| Nephronophthisis 2 | 腎癆2型 |
| Quadriplegia | 四肢癱瘓 |
| Fuchs' Endothelial Dystrophy | Fuchs內皮營養(yǎng)不良癥 |
| Aphthous Stomatitis | 口瘡性口炎 |
| Corneal Ulcer | 角膜潰瘍 |
| Danon Disease | Danon病 |
| Infective Endocarditis | 感染性心內膜炎 |
| Adrenal Gland Disease | 腎上腺疾病 |
| Optic Pathway Glioma | 視神經膠質瘤 |
| Macular Dystrophy with Central Cone Involvement | 伴中央錐體受累的黃斑營養(yǎng)不良 |
| Mutism | 緘默癥 |
| Muscular Dystrophy-Dystroglycanopathy , Type B, 3 | 肌營養(yǎng)不良-肌營養(yǎng)不良蛋白聚糖病，B型，3型 |
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 | 肌營養(yǎng)不良-肌營養(yǎng)不良蛋白聚糖病，B型C, 3 |
| Megaloblastic Anemia | 巨幼細胞性貧血 |
| Iga Nephropathy 1 | IGA腎病1 |
| Interstitial Lung Disease | 間質性肺病 |
| Bardet-Biedl Syndrome 16 | Bardet-Biedl綜合征16 |
| Spinal Muscular Atrophy | 脊髓性肌萎縮 |
| Cone-Rod Dystrophy 19 | 視錐-視桿營養(yǎng)不良19 |
| Usher Syndrome, Type Iiib | Usher綜合征，IIIb型 |
| Alpha-Methylacyl-Coa Racemase Deficiency | α-甲基?；o酶A消旋酶缺乏癥 |
| Asphyxia Neonatorum | 新生兒窒息 |
| Night Blindness, Congenital Stationary, Type 1g | 先天性靜止性夜盲癥，1g型 |
| Liver Cirrhosis | 肝硬化 |
| Polymicrogyria | 多小腦回畸形 |
| Williams-Beuren Syndrome | Williams-Beuren綜合征 |
| Tetralogy of Fallot | 法洛四聯癥 |
| Hemifacial Atrophy, Progressive | 進行性半顏面萎縮 |
| Ring Chromosome 14 Syndrome | 14號環(huán)狀染色體綜合征 |
| Ras-Associated Autoimmune Leukoproliferative Disorder | Ras相關自身免疫性白細胞增生性疾病 |
| Mrcs Syndrome | MRCS綜合征 |
| Malignant Atrophic Papulosis | 惡性萎縮性丘疹病 |
| Bohring-Opitz Syndrome | Bohring-Opitz綜合征 |
| Essential Thrombocythemia | 原發(fā)性血小板增多癥 |
| Alpha-Thalassemia | α-地中海貧血 |
| Autosomal Dominant Optic Atrophy, Classic Form | 常染色體顯性遺傳經典型視神經萎縮 |
| Smith-Magenis Syndrome | 史密斯-馬吉尼斯綜合征 |
| Lichen Planus | 扁平苔蘚 |
| Adrenoleukodystrophy | 腎上腺腦白質營養(yǎng)不良 |
| Arthropathy | 關節(jié)病 |
| Cold-Induced Sweating Syndrome 1 | 冷誘發(fā)性出汗綜合征1 |
| Hashimoto Thyroiditis | 橋本甲狀腺炎 |
| Joubert Syndrome with Ocular Defect | 伴有眼部缺損的Joubert綜合征 |
由于篇幅有限，我們未能將另外一千多種疾病名稱列出。(責任編輯：佳學基因)
