【佳學(xué)基因檢測(cè)】視網(wǎng)膜色素變性基因檢測(cè)選擇什么樣的項(xiàng)目，做什么標(biāo)準(zhǔn)？
趙佳學(xué)的情況介紹
2025年國慶期間，趙佳學(xué)（化名）通過佳學(xué)基因官網(wǎng)咨詢基因解碼師。諮詢“視網(wǎng)膜色素變性基因檢測(cè)相關(guān)事宜”。趙佳學(xué)介紹說:"我的姥姥有這個(gè)疾病，然后我的大姨二姨也有這個(gè)問題，大姨有一個(gè)孩子,也有這個(gè)問題，大姨孩子的后代沒有這個(gè)問題。二姨有兩個(gè)孩子，一男一女也都有這個(gè)問題，男孩的后代沒有這個(gè)問題。女孩的后代有這個(gè)問題。我媽跟我三姨，跟我舅舅，現(xiàn)在六十多歲，目前沒有這個(gè)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(huì)不會(huì)有問題。
人為什么會(huì)得視網(wǎng)膜色素變性？
視網(wǎng)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(zhì)量。視網(wǎng)膜色素變性是一種異質(zhì)性遺傳疾病，其特點(diǎn)是視網(wǎng)膜進(jìn)行性退化，從而導(dǎo)致進(jìn)行性視力喪失。它可以以綜合征形式出現(xiàn)（如 Usher 綜合征和 Bardet-Biedl 綜合征），也可以以非綜合征形式出現(xiàn)。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(xué)基因已收集數(shù)百個(gè)基因的突主為可以產(chǎn)生視網(wǎng)膜色素變性或者產(chǎn)生類似視網(wǎng)膜變性的疾病征狀。其中大多數(shù)在感光細(xì)胞或視網(wǎng)膜色素上皮中表達(dá)。佳學(xué)基因通過科普文章重點(diǎn)介紹視網(wǎng)膜色素變性的發(fā)病機(jī)制和遺傳學(xué)。由于視網(wǎng)膜色素變性是一種極其異質(zhì)性的疾病，表現(xiàn)出多種突變；同一基因的不同變異可能會(huì)誘發(fā)不同的疾病。因此，采用基于全外顯子測(cè)序及基因解碼技術(shù)的視網(wǎng)膜色素變性基因檢測(cè)可以以更高的檢出率和陽性率發(fā)現(xiàn)導(dǎo)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(wǎng)膜色素變性的隱藏成因。眼科致病基因鑒定突變基因檢測(cè)結(jié)果， 將有助于更好地理解疾病的基因型-表型相關(guān)性，并可能開發(fā)新的治療方法。
佳學(xué)基因視網(wǎng)膜疾病專項(xiàng)基因檢測(cè)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(jì)失調(diào)、視網(wǎng)膜色素變性及糖尿病 |
| Neuropathy, Ataxia, and Retinitis Pigmentosa | 神經(jīng)病變、共濟(jì)失調(diào)及視網(wǎng)膜色素變性 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract | 多發(fā)性神經(jīng)病變、聽力損失、共濟(jì)失調(diào)、視網(wǎng)膜色素變性及白內(nèi)障 |
| Retinal Ciliopathy Due to Mutation in the Retinitis Pigmentosa-1 Gene | 視網(wǎng)膜色素變性-1基因突變導(dǎo)致的視網(wǎng)膜纖毛病變 |
| Retinal Degeneration | 視網(wǎng)膜變性 |
| Retinal Detachment | 視網(wǎng)膜脫離 |
| Retinal Disease | 視網(wǎng)膜疾病 |
| Retinitis | 視網(wǎng)膜炎 |
| Retinitis Pigmentosa | 視網(wǎng)膜色素變性 |
| Retinitis Pigmentosa 1 | 視網(wǎng)膜色素變性1型 |
| Retinitis Pigmentosa 10 | 視網(wǎng)膜色素變性10型 |
| Retinitis Pigmentosa 11 | 視網(wǎng)膜色素變性11型 |
| Retinitis Pigmentosa 12 | 視網(wǎng)膜色素變性12型 |
| Retinitis Pigmentosa 13 | 視網(wǎng)膜色素變性13型 |
| Retinitis Pigmentosa 14 | 視網(wǎng)膜色素變性14型 |
| Retinitis Pigmentosa 17 | 視網(wǎng)膜色素變性17型 |
| Retinitis Pigmentosa 18 | 視網(wǎng)膜色素變性18型 |
| Retinitis Pigmentosa 19 | 視網(wǎng)膜色素變性19型 |
| Retinitis Pigmentosa 2 | 視網(wǎng)膜色素變性2型 |
| Retinitis Pigmentosa 20 | 視網(wǎng)膜色素變性20型 |
| Retinitis Pigmentosa 22 | 視網(wǎng)膜色素變性22型 |
| Retinitis Pigmentosa 23 | 視網(wǎng)膜炎視網(wǎng)膜色素變性23型 |
| Retinitis Pigmentosa 24 | 視網(wǎng)膜色素變性24型 |
| Retinitis Pigmentosa 25 | 視網(wǎng)膜色素變性25型 |
| Retinitis Pigmentosa 26 | 視網(wǎng)膜色素變性26型 |
| Retinitis Pigmentosa 27 | 視網(wǎng)膜色素變性27型 |
| Retinitis Pigmentosa 28 | 視網(wǎng)膜色素變性28型 |
| Retinitis Pigmentosa 29 | 視網(wǎng)膜色素變性29型 |
| Retinitis Pigmentosa 3 | 視網(wǎng)膜色素變性3型 |
| Retinitis Pigmentosa 30 | 視網(wǎng)膜色素變性30型 |
| Retinitis Pigmentosa 31 | 視網(wǎng)膜色素變性31型 |
| Retinitis Pigmentosa 32 | 視網(wǎng)膜色素變性32型 |
| Retinitis Pigmentosa 33 | 視網(wǎng)膜色素變性33型 |
| Retinitis Pigmentosa 34 | 視網(wǎng)膜色素變性34型 |
| Retinitis Pigmentosa 35 | 視網(wǎng)膜色素變性35型 |
| Retinitis Pigmentosa 36 | 視網(wǎng)膜色素變性36型 |
| Retinitis Pigmentosa 37 | 視網(wǎng)膜色素變性37型 |
| Retinitis Pigmentosa 38 | 視網(wǎng)膜色素變性38型 |
| Retinitis Pigmentosa 39 | 視網(wǎng)膜色素變性39型 |
| Retinitis Pigmentosa 4 | 視網(wǎng)膜色素變性4型 |
| Retinitis Pigmentosa 40 | 視網(wǎng)膜色素變性40型 |
| Retinitis Pigmentosa 41 | 視網(wǎng)膜色素變性41型 |
| Retinitis Pigmentosa 42 | 視網(wǎng)膜色素變性42型 |
| Retinitis Pigmentosa 43 | 視網(wǎng)膜色素變性43型 |
| Retinitis Pigmentosa 44 | 視網(wǎng)膜色素變性44型 |
| Retinitis Pigmentosa 45 | 視網(wǎng)膜色素變性45型 |
| Retinitis Pigmentosa 46 | 視網(wǎng)膜色素變性46型 |
| Retinitis Pigmentosa 47 | 視網(wǎng)膜色素變性47型 |
| Retinitis Pigmentosa 48 | 視網(wǎng)膜色素變性48型 |
| Retinitis Pigmentosa 49 | 視網(wǎng)膜色素變性49型 |
| Retinitis Pigmentosa 50 | 視網(wǎng)膜色素變性50型 |
| Retinitis Pigmentosa 51 | 視網(wǎng)膜色素變性51型 |
| Retinitis Pigmentosa 54 | 視網(wǎng)膜色素變性54型 |
| Retinitis Pigmentosa 55 | 視網(wǎng)膜色素變性55型 |
| Retinitis Pigmentosa 56 | 視網(wǎng)膜色素變性56型 |
| Retinitis Pigmentosa 57 | 視網(wǎng)膜色素變性57型 |
| Retinitis Pigmentosa 58 | 視網(wǎng)膜色素變性58型 |
| Retinitis Pigmentosa 59 | 視網(wǎng)膜色素變性59型 |
| Retinitis Pigmentosa 6 | 視網(wǎng)膜色素變性6型 |
| Retinitis Pigmentosa 60 | 視網(wǎng)膜色素變性60型 |
| Retinitis Pigmentosa 61 | 視網(wǎng)膜色素變性61型 |
| Retinitis Pigmentosa 62 | 視網(wǎng)膜色素變性62型 |
| Retinitis Pigmentosa 63 | 視網(wǎng)膜色素變性63型 |
| Retinitis Pigmentosa 66 | 視網(wǎng)膜色素變性66型 |
| Retinitis Pigmentosa 67 | 視網(wǎng)膜色素變性67型 |
| Retinitis Pigmentosa 68 | 視網(wǎng)膜色素變性68型 |
| Retinitis Pigmentosa 69 | 視網(wǎng)膜色素變性69型 |
| Retinitis Pigmentosa 7 | 視網(wǎng)膜色素變性7型 |
| Retinitis Pigmentosa 70 | 視網(wǎng)膜色素變性70型 |
| Retinitis Pigmentosa 71 | 視網(wǎng)膜色素變性71型 |
| Retinitis Pigmentosa 72 | 視網(wǎng)膜炎視網(wǎng)膜色素變性72型 |
| Retinitis Pigmentosa 73 | 視網(wǎng)膜色素變性73型 |
| Retinitis Pigmentosa 74 | 視網(wǎng)膜色素變性74型 |
| Retinitis Pigmentosa 75 | 視網(wǎng)膜色素變性75型 |
| Retinitis Pigmentosa 76 | 視網(wǎng)膜色素變性76型 |
| Retinitis Pigmentosa 77 | 視網(wǎng)膜色素變性77型 |
| Retinitis Pigmentosa 78 | 視網(wǎng)膜色素變性78型 |
| Retinitis Pigmentosa 79 | 視網(wǎng)膜色素變性79型 |
| Retinitis Pigmentosa 80 | 視網(wǎng)膜色素變性80型 |
| Retinitis Pigmentosa 81 | 視網(wǎng)膜色素變性81型 |
| Retinitis Pigmentosa 83 | 視網(wǎng)膜色素變性83型 |
| Retinitis Pigmentosa 84 | 視網(wǎng)膜色素變性84型 |
| Retinitis Pigmentosa 85 | 視網(wǎng)膜色素變性85型 |
| Retinitis Pigmentosa 86 | 視網(wǎng)膜色素變性86型 |
| Retinitis Pigmentosa 87 with Choroidal Involvement | 累及脈絡(luò)膜的視網(wǎng)膜色素變性87型 |
| Retinitis Pigmentosa 88 | 視網(wǎng)膜色素變性88型 |
| Retinitis Pigmentosa 89 | 視網(wǎng)膜色素變性89型 |
| Retinitis Pigmentosa 9 | 視網(wǎng)膜色素變性9型 |
| Retinitis Pigmentosa 90 | 視網(wǎng)膜色素變性90型 |
| Retinitis Pigmentosa 91 | 視網(wǎng)膜色素變性91型 |
| Retinitis Pigmentosa 92 | 視網(wǎng)膜色素變性92型 |
| Retinitis Pigmentosa 93 | 視網(wǎng)膜色素變性93型 |
| Retinitis Pigmentosa 95 | 視網(wǎng)膜色素變性95型 |
| Retinitis Pigmentosa 96 | 視網(wǎng)膜色素變性96型 |
| Retinitis Pigmentosa 97 | 視網(wǎng)膜炎視網(wǎng)膜色素變性97型 |
| Retinitis Pigmentosa 98 | 視網(wǎng)膜色素變性98型 |
| Retinitis Pigmentosa and Erythrocytic Microcytosis | 視網(wǎng)膜色素變性與紅細(xì)胞小紅細(xì)胞增多癥 |
| Retinitis Pigmentosa with or Without Skeletal Anomalies | 伴或不伴骨骼異常的視網(wǎng)膜色素變性 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, and Hypogonadism | 視網(wǎng)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(wǎng)膜色素變性 |
| Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections with or Without Deafness | X連鎖視網(wǎng)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(wǎng)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(wǎng)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(wǎng)膜色素變性綜合征 |
眼科疾病中，還有哪些疾病會(huì)產(chǎn)生與視網(wǎng)膜色素變性類似癥狀，選擇眼科疾病基因檢測(cè)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(xiàn)伴視網(wǎng)膜色素變性 |
| Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome | 痙攣性四肢癱瘓-視網(wǎng)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(wǎng)膜色素變性 |
| Peripheral Retinal Degeneration | 周圍視網(wǎng)膜變性 |
| Retinitis Pigmentosa 82 with or Without Situs Inversus | 視網(wǎng)膜色素變性82伴或不伴內(nèi)臟反位 |
| Retinitis Pigmentosa with or Without Situs Inversus | 視網(wǎng)膜色素變性伴或不伴內(nèi)臟反位 |
| Retinitis Pigmentosa, Y-Linked | Y連鎖視網(wǎng)膜色素變性 |
| Retinitis Pigmentosa 99 | 視網(wǎng)膜色素變性99 |
| X-Linked Retinitis Pigmentosa and Sinorespiratory Infections | X連鎖視網(wǎng)膜色素變性及鼻竇呼吸道感染 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogenitalism Syndrome | 視網(wǎng)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(jīng)變性，伴有視網(wǎng)膜色素變性、感音神經(jīng)性聽力損失和脫髓鞘性周圍神經(jīng)病變 |
| Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa | 肢根發(fā)育不良、脊柱側(cè)彎和視網(wǎng)膜色素變性 |
| Spastic Quadriplegia, Retinitis Pigmentosa, and Impaired Intellectual Development | 痙攣性四肢癱瘓、視網(wǎng)膜色素變性及智力發(fā)育障礙 |
| Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities | 耳聾、白內(nèi)障、視網(wǎng)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(wǎng)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(wǎng)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(zhì)腦病-缺血性卒中-視網(wǎng)膜色素變性綜合征 |
| Hereditary Retinal Dystrophy | 遺傳性視網(wǎng)膜營養(yǎng)不良 |
| Late-Onset Retinal Degeneration | 遲發(fā)性視網(wǎng)膜變性 |
| Nonsyndromic Retinitis Pigmentosa | 非綜合征性視網(wǎng)膜色素變性 |
| Macular Retinal Edema | 黃斑視網(wǎng)膜水腫 |
| Retinal Vein Occlusion | 視網(wǎng)膜靜脈阻塞 |
| Retinal Vascular Disease | 視網(wǎng)膜血管疾病 |
| Retinitis Pigmentosa Inversa with Deafness | 伴耳聾的逆向性視網(wǎng)膜色素變性 |
| Microcephaly, Retinitis Pigmentosa, and Sutural Cataract | 小頭畸形、視網(wǎng)膜色素變性及縫線性白內(nèi)障 |
| Skeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa | 伴有視網(wǎng)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(jìn)行性退化，伴有視網(wǎng)膜色素變性 |
| Cytomegalovirus Retinitis | 巨細(xì)胞病毒性視網(wǎng)膜炎 |
| Cone-Rod Dystrophy 2 | 視錐-視桿細(xì)胞營養(yǎng)不良2型 |
| Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome | 視網(wǎng)膜營養(yǎng)不良、青少年白內(nèi)障和矮小綜合征 |
| Retinal Artery Occlusion | 視網(wǎng)膜動(dòng)脈阻塞 |
| Retinal Perforation | 視網(wǎng)膜穿孔 |
| Central Retinal Vein Occlusion | 視網(wǎng)膜中央靜脈阻塞 |
| Retinal Vascular Occlusion | 視網(wǎng)膜血管阻塞 |
| Microphthalmia, Isolated 5 | 孤立性小眼球癥5型 |
| Retinal Ischemia | 視網(wǎng)膜缺血 |
| Retinal Vasculitis | 視網(wǎng)膜血管炎 |
| Inherited Retinal Disorder | 遺傳性視網(wǎng)膜疾病 |
| Retinopathy-Sensory Neuropathy Syndrome | 視網(wǎng)膜病變-感覺神經(jīng)病變綜合征 |
| Central Retinal Artery Occlusion | 視網(wǎng)膜中央動(dòng)脈阻塞 |
| Branch Retinal Artery Occlusion | 視網(wǎng)膜分支動(dòng)脈阻塞 |
| Pseudoretinitis Pigmentosa | 假性視網(wǎng)膜色素變性 |
| Acute Retinal Necrosis Syndrome | 急性視網(wǎng)膜壞死綜合征 |
| Doyne Honeycomb Retinal Dystrophy | 多因蜂窩狀視網(wǎng)膜營養(yǎng)不良 |
| Retinal Cancer | 視網(wǎng)膜癌 |
| Bothnia Retinal Dystrophy | 博思尼亞視網(wǎng)膜營養(yǎng)不良 |
| Macular Dystrophy, Retinal, 2 | 視網(wǎng)膜黃斑營養(yǎng)不良2型 |
| Usher Syndrome | 烏謝爾綜合征 |
| Retinal Cone Dystrophy 1 | 視網(wǎng)膜視錐細(xì)胞營養(yǎng)不良 1 型 |
| Retinal Cone Dystrophy 4 | 視錐細(xì)胞營養(yǎng)不良 4 型 |
| Retinal Cone Dystrophy 3a | 視錐細(xì)胞營養(yǎng)不良 3a 型 |
| Infantile Cerebellar-Retinal Degeneration | 嬰兒小腦-視網(wǎng)膜變性 |
| Macular Dystrophy, Retinal, 1, North Carolina Type | 視網(wǎng)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(xì)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(wǎng)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(wǎng)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(wǎng)膜營養(yǎng)不良、虹膜缺損和粉刺性痤瘡綜合征 |
| Retinal Lattice Degeneration | 視網(wǎng)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(wǎng)膜營養(yǎng)不良 |
| Retinal Telangiectasia | 視網(wǎng)膜毛細(xì)血管擴(kuò)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(zhuǎn)運(yùn)缺陷導(dǎo)致的進(jìn)行性視網(wǎng)膜營養(yǎng)不良 |
| Cone-Rod Dystrophy 16 | 視錐-視桿細(xì)胞營養(yǎng)不良16 |
| Retinal Macular Dystrophy | 視網(wǎng)膜黃斑營養(yǎng)不良 |
| Neurodegeneration with Brain Iron Accumulation 1 | 伴腦鐵沉積的神經(jīng)變性 1 |
| Reticular Dystrophy of Retinal Pigment Epithelium | 視網(wǎng)膜色素上皮網(wǎng)狀營養(yǎng)不良 |
| Syndromic Inherited Retinal Disorder | 綜合征性遺傳性視網(wǎng)膜疾病 |
| Retinal Dystrophy with or Without Extraocular Anomalies | 伴或不伴眼外畸形的視網(wǎng)膜營養(yǎng)不良 |
| Cone-Rod Dystrophy 15 | 視錐-視桿細(xì)胞營養(yǎng)不良 15 |
| Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole | 后極部網(wǎng)狀色素性視網(wǎng)膜營養(yǎng)不良 |
| Leber Plus Disease | Leber 綜合征 |
| Retinal Aplasia | 視網(wǎng)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(wǎng)膜蔓狀血管瘤 |
| Combined Hamartoma of the Retina and Retinal Pigment Epithelium | 視網(wǎng)膜和視網(wǎng)膜色素上皮復(fù)合錯(cuò)構(gòu)瘤 |
| Retinal Ciliopathy | 視網(wǎng)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(wǎng)膜營養(yǎng)不良 |
| Fundus Albipunctatus | 白點(diǎn)狀眼底 |
| Rpe65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | Rpe65 相關(guān) Leber 先天性黑蒙/早發(fā)性重度視網(wǎng)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(xì)胞營養(yǎng)不良 |
| Usher Syndrome, Type I | Usher 綜合征，I 型 |
| Rare Retinal Disorder | 罕見視網(wǎng)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(jīng)視網(wǎng)膜炎 |
| Cone-Rod Dystrophy 6 | 視錐-視桿細(xì)胞營養(yǎng)不良 6 |
| Vitreoretinopathy, Neovascular Inflammatory | 新生血管性炎癥性玻璃體視網(wǎng)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(guān)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(xì)胞營養(yǎng)不良癥 |
| Retinoblastoma | 視網(wǎng)膜母細(xì)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(diǎn)綜合征 |
| Cohen Syndrome | 科恩綜合征 |
| Cone Dystrophy | 視錐細(xì)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(wǎng)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(xì)胞營養(yǎng)不良癥 |
| Kuhnt-Junius Degeneration | 庫恩特-尤尼烏斯變性 |
| Cataract | 白內(nèi)障 |
| Cone-Rod Dystrophy 9 | 9 型視錐-視桿細(xì)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(wǎng)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(luò)膜視網(wǎng)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(jīng)疾病 |
| Usher Syndrome, Type Iia | Usher綜合征，IIa型 |
| Retinopathy of Prematurity | 早產(chǎn)兒視網(wǎng)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(jīng)元蠟樣脂褐質(zhì)沉積癥 |
| Spinocerebellar Ataxia 7 | 脊髓小腦共濟(jì)失調(diào)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(luò)膜視網(wǎng)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(jìn)行性視錐細(xì)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(xì)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(xì)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(luò)膜視網(wǎng)膜病變 |
| Anterior Uveitis | 前葡萄膜炎 |
| Neuropathy | 神經(jīng)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(diǎn) |
| Acquired Immunodeficiency Syndrome | 獲得性免疫缺陷綜合征 |
| Central Serous Chorioretinopathy | 中心性漿液性脈絡(luò)膜視網(wǎng)膜病變 |
| Preretinal Fibrosis | 視網(wǎng)膜前纖維化 |
| Retinoschisis | 視網(wǎng)膜劈裂 |
| Susac Syndrome | 蘇薩克綜合征 |
| Cone Dystrophy 3 | 視錐細(xì)胞營養(yǎng)不良3 |
| Vasoproliferative Tumor of the Retina | 視網(wǎng)膜血管增生性腫瘤 |
| Ocular Hypertension | 高眼壓 |
| Neuritis | 神經(jīng)炎 |
| Usher Syndrome Type 2 | Usher綜合征2型 |
| Optic Neuritis | 視神經(jīng)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(nèi)炎 |
| Telangiectasis | 毛細(xì)血管擴(kuò)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(wǎng)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(jīng)病變（修飾型） |
| Immune Deficiency Disease | 免疫缺陷病 |
| Sensorineural Hearing Loss | 感音神經(jīng)性聽力損失 |
| Primary Ciliary Dyskinesia | 原發(fā)性纖毛運(yùn)動(dòng)障礙 |
| Diabetes Mellitus | 糖尿病 |
| Nonarteritic Anterior Ischemic Optic Neuropathy | 非動(dòng)脈炎性前部缺血性視神經(jīng)病變 |
| Nephronophthisis | 腎癆 |
| Bietti Crystalline Corneoretinal Dystrophy | Bietti晶體性角視網(wǎng)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(wǎng)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(qiáng)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(nèi)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(yuǎn)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(luò)膜視網(wǎng)膜炎 |
| Exudative Vitreoretinopathy 1 | 滲出性玻璃體視網(wǎng)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(jīng)典型雷夫蘇姆病 |
| Choroidal Dystrophy, Central Areolar, 1 | 中央乳暈脈絡(luò)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(wǎng)膜萎縮蛋白病 |
| Hypertensive Retinopathy | 高血壓性視網(wǎng)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(jīng)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(bǔ) |
| 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(jié)節(jié)性硬化癥1 |
| Cerebrovascular Disease | 腦血管疾病 |
| Background Diabetic Retinopathy | 背景：糖尿病視網(wǎng)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(jīng)元性蠟樣脂褐質(zhì)沉積癥 3 |
| Tuberous Sclerosis 2 | 結(jié)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(jīng)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(wǎng)膜劈裂 |
| Melanoma | 黑色素瘤 |
| Telangiectasia, Impaired Intellectual Development, Microcephaly, Metaphyseal Dysplasia, Eye Abnormalities, and Short Stature | 毛細(xì)血管擴(kuò)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(xì)胞病 |
| Tuberous Sclerosis | 結(jié)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(fēng) |
| Connective Tissue Disease | 結(jié)締組織病 |
| Toxic Encephalopathy | 中毒性腦病 |
| Cancer-Associated Retinopathy | 癌癥相關(guān)視網(wǎng)膜病變 |
| Choroiditis | 脈絡(luò)膜炎 |
| Kidney Disease | 腎臟疾病 |
| Dementia | 癡呆 |
| Intermediate Uveitis | 中間葡萄膜炎 |
| Systemic Lupus Erythematosus | 系統(tǒng)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(jì)失調(diào) |
| Gyrate Atrophy of Choroid and Retina | 脈絡(luò)膜和視網(wǎng)膜回狀萎縮 |
| Neurofibromatosis | 神經(jīng)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(jīng)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(rèn)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(jīng)系統(tǒng)疾病 |
| Sarcoidosis 1 | 結(jié)節(jié)病1 |
| Alstrom Syndrome | Alstrom綜合征 |
| Primary Pulmonary Tuberculosis | 原發(fā)性肺結(jié)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(cè)索硬化癥 7 |
| Autoimmune Disease | 自身免疫性疾病 |
| Keratoconus | 圓錐角膜 |
| Sarcoidosis 2 | 結(jié)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(zhì)代謝紊亂 |
| Pigmented Paravenous Chorioretinal Atrophy | 色素性靜脈旁脈絡(luò)膜視網(wǎng)膜萎縮 |
| Photoparoxysmal Response 1 | 光陣發(fā)性反應(yīng) 1 |
| Hypogonadism | 性腺功能低下 |
| Protein-Deficiency Anemia | 蛋白質(zhì)缺乏性貧血 |
| Usher Syndrome, Type Iic | Usher 綜合征，1ic 型 |
| Cone-Rod Dystrophy 3 | 視錐-視桿細(xì)胞營養(yǎng)不良 3 |
| Pigmented Paravenous Retinochoroidal Atrophy | 色素性靜脈旁視網(wǎng)膜脈絡(luò)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(xì)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(jì)失調(diào) |
| Cystic Kidney Disease | 囊性腎病 |
| Conjunctivitis | 結(jié)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(cè)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(wǎng)膜脈絡(luò)膜病變 |
| Color Blindness | 色盲 |
| Esotropia | 內(nèi)斜視 |
| Muscular Dystrophy, Duchenne Type | 杜氏肌營養(yǎng)不良癥 |
| Neurofibromatosis, Type I | I型神經(jīng)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(wǎng)膜病變 |
| Lateral Sclerosis | 側(cè)索硬化癥 |
| Degenerative Myopia | 退行性近視 |
| Coronary Artery Anomaly | 冠狀動(dòng)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(jīng)性蠟樣脂褐質(zhì)沉積癥 |
| Temporal Arteritis | 顳動(dòng)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(fù)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(jīng)元蠟樣脂褐質(zhì)沉積癥 |
| Optic Nerve Hypoplasia, Bilateral | 雙側(cè)視神經(jīng)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(luò)膜視網(wǎng)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(nèi)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(xì)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(dǎo)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(tǒng)性肥大細(xì)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(yuǎn)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(jīng)缺損 |
| Vitreoretinal Degeneration | 玻璃體視網(wǎng)膜變性 |
| Huntington Disease | 亨廷頓病 |
| Gastric Antral Vascular Ectasia | 胃竇血管擴(kuò)張癥 |
| Leukemia, Acute Lymphoblastic | 急性淋巴細(xì)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(xì)血管瘤 |
| Diffuse Idiopathic Skeletal Hyperostosis | 彌漫性特發(fā)性骨質(zhì)增生 |
| Fetal Anticonvulsant Syndrome | 胎兒抗驚厥綜合征 |
| Dermatitis | 皮炎 |
| Acne | 痤瘡 |
| Nervous System Disease | 神經(jīng)系統(tǒng)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(zhì)瘤易感性1型 |
| Body Mass Index Quantitative Trait Locus 11 | 體重指數(shù)數(shù)量性狀位點(diǎn)11 |
| Dermatitis, Atopic | 特應(yīng)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(jīng)萎縮 |
| Albinism, Ocular, Type I | 眼白化病，I型 |
| Posterior Column Ataxia | 后柱共濟(jì)失調(diào) |
| Ciliary Dyskinesia, Primary, 1 | 原發(fā)性纖毛運(yùn)動(dòng)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(nèi)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(fēng)相關(guān)多種自身免疫性疾病易感性 6 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 | 白癜風(fēng)相關(guān)多種自身免疫性疾病易感性 1 |
| Attention Deficit-Hyperactivity Disorder | 注意力缺陷多動(dòng)障礙 |
| Polycystic Kidney Disease | 多囊腎病 |
| Chronic Progressive External Ophthalmoplegia | 慢性進(jìn)行性眼外肌麻痹 |
| Adenoma | 腺瘤 |
| B-Lymphoblastic Leukemia/lymphoma | B 淋巴細(xì)胞白血病/淋巴瘤 |
| Iritis | 虹膜炎 |
| Twin-Reversed Arterial Perfusion Sequence | 雙胎逆向動(dòng)脈灌注序列 |
| Intracranial Hypertension, Idiopathic | 特發(fā)性顱內(nèi)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(jìn)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(tǒng)疾病 |
| Angioid Streaks | 血管樣條紋 |
| Systemic Scleroderma | 系統(tǒng)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(yùn)動(dòng)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(shù)數(shù)量性狀位點(diǎn)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(wǎng)狀乳頭狀瘤病 |
| Sympathetic Ophthalmia | 交感性眼炎 |
| Body Mass Index Quantitative Trait Locus 7 | 體重指數(shù)數(shù)量性狀位點(diǎn)7 |
| Body Mass Index Quantitative Trait Locus 9 | 體重指數(shù)數(shù)量性狀位點(diǎn)9 |
| Body Mass Index Quantitative Trait Locus 4 | 體重指數(shù)數(shù)量性狀位點(diǎn)4 |
| Body Mass Index Quantitative Trait Locus 8 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 8 |
| Body Mass Index Quantitative Trait Locus 14 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 14 |
| Body Mass Index Quantitative Trait Locus 12 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 12 |
| Body Mass Index Quantitative Trait Locus 19 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 19 |
| Body Mass Index Quantitative Trait Locus 18 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 18 |
| Body Mass Index Quantitative Trait Locus 20 | 體質(zhì)指數(shù)數(shù)量性狀位點(diǎn) 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(wǎng)膜病變 |
| Ceroid Lipofuscinosis, Neuronal, 1 | 神經(jīng)元型蠟樣脂褐質(zhì)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(dòng)脈病，伴皮質(zhì)下梗死和1型白質(zhì)腦病 |
| Oculocutaneous Albinism | 眼皮膚白化病 |
| Brachydactyly | 短指癥 |
| Pheochromocytoma | 嗜鉻細(xì)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(nèi)臟異位癥5 |
| Cone-Rod Dystrophy 10 | 視錐-視桿細(xì)胞營養(yǎng)不良癥10 |
| Ceroid Lipofuscinosis, Neuronal, 2 | 神經(jīng)元蠟樣脂褐質(zhì)沉積癥2 |
| Pik3ca-Related Overgrowth Spectrum | Pik3ca相關(guān)過度生長譜 |
| Pik3ca-Related Overgrowth Syndrome | Pik3ca相關(guān)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(shì)畸形 |
| Polycythemia | 紅細(xì)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(xì)胞白血病 |
| Chronic Myelogenous Leukemia, Bcr-Abl1 Positive | Bcr-Abl1陽性慢性粒細(xì)胞白血病 |
| Sensory Peripheral Neuropathy | 感覺性周圍神經(jīng)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(jìn)行性眼結(jié)核 |
| Allergic Disease | 過敏性疾病 |
| Ataxia-Telangiectasia | 共濟(jì)失調(diào)-毛細(xì)血管擴(kuò)張癥 |
| B-Cell Lymphoma | B細(xì)胞淋巴瘤 |
| Movement Disease | 運(yùn)動(dòng)疾病 |
| Central Nervous System Disease | 中樞神經(jīng)系統(tǒng)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(jì)失調(diào)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(guān)視網(wǎng)膜病變 |
| Bardet-Biedl Syndrome 5 | Bardet-Biedl 綜合征 5 |
| Heimler Syndrome 1 | Heimler 綜合征 1 |
| Rubella | 風(fēng)疹 |
| Leukemia, Acute Myeloid | 急性髓系白血病 |
| Polyarteritis Nodosa | 結(jié)節(jié)性多動(dòng)脈炎 |
| Ceroid Lipofuscinosis, Neuronal, 6a | 神經(jīng)元蠟樣脂褐質(zhì)沉積癥 6a |
| Glomerulonephritis | 腎小球腎炎 |
| Aceruloplasminemia | 銅藍(lán)蛋白缺乏癥 |
| Sideroblastic Anemia with B-Cell Immunodeficiency, Periodic Fevers, and Developmental Delay | 伴有 B 細(xì)胞免疫缺陷、周期性發(fā)熱和發(fā)育遲緩的鐵粒幼細(xì)胞性貧血 |
| Chorioretinal Atrophy, Progressive Bifocal | 進(jìn)行性雙焦脈絡(luò)膜視網(wǎng)膜萎縮 |
| Fryns Microphthalmia Syndrome | Fryns 小眼畸形綜合征 |
| Friedreich Ataxia | Friedreich 共濟(jì)失調(diào) |
| 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(dòng)脈炎性前部缺血性視神經(jīng)病變 |
| Scoliosis | 脊柱側(cè)彎 |
| Learning Disability | 學(xué)習(xí)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(wǎng)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(lán)錐單色性視神經(jīng)病 |
| Cone-Rod Dystrophy 12 | 視錐-視桿細(xì)胞營養(yǎng)不良12型 |
| Lung Cancer | 肺癌 |
| Polykaryocytosis Inducer | 多核細(xì)胞增多癥誘導(dǎo)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(diǎn)綜合征 |
| Fuchs' Heterochromic Uveitis | 福克斯異色性葡萄膜炎 |
| Severe Combined Immunodeficiency | 嚴(yán)重聯(lián)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(xì)胞白血病3型 |
| Wagner Disease | 瓦格納病 |
| Proteasome-Associated Autoinflammatory Syndrome 1 | 蛋白酶體相關(guān)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(wǎng)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(jìn)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(jīng)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(shù)數(shù)量性狀位點(diǎn) 1 |
| Leukocoria | 白瞳癥 |
| Anterior Segment Dysgenesis | 眼前節(jié)發(fā)育不全 |
| Cataract-Glaucoma Syndrome | 白內(nèi)障-青光眼綜合征 |
| Autonomic Neuropathy | 自主神經(jīng)病變 |
| Ocular Tuberculosis | 眼結(jié)核病 |
| Charge Syndrome | Charge 綜合征 |
| Leukodystrophy | 白質(zhì)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(nèi)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(jì)失調(diào) |
| Basal Laminar Drusen | 基底層視網(wǎng)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(kuò)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(cè)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(jié)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(xì)胞增多癥 |
| Diarrhea | 腹瀉 |
| Bronchiectasis | 支氣管擴(kuò)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(jié)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(jīng)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(jīng)病 |
| Neutropenia | 中性粒細(xì)胞減少癥 |
| Meningioma | 腦膜瘤 |
| Wilson Disease | 威爾遜病 |
| Secondary Progressive Multiple Sclerosis | 繼發(fā)性進(jìn)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(fēng)濕性關(guān)節(jié)炎 |
| Mucolipidosis | 粘脂沉積癥 |
| Infantile Neuronal Ceroid Lipofuscinosis | 嬰兒神經(jīng)元蠟樣脂褐質(zhì)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(qiáng)直性肌營養(yǎng)不良癥 |
| Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 | 進(jìn)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(jìn)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(jìn)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(jìn)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(luò)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(guān)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(jīng)元蠟樣脂褐質(zhì)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(qiáng)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(luò)膜骨瘤 |
| Rickets | 佝僂病 |
| Polycythemia Vera | 真性紅細(xì)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(tǒng)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(guān)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(zhì)疏松癥 |
| Siderosis | 鐵質(zhì)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(jīng)膠質(zhì)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(zāi)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(jīng)纖維瘤 |
| Severe Pre-Eclampsia | 重度先兆子癇 |
| Mature Cataract | 成熟性白內(nèi)障 |
| Meningioma, Familial | 家族性腦膜瘤 |
| Spastic Ataxia | 痙攣性共濟(jì)失調(diào) |
| Hematologic Cancer | 血液系統(tǒng)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(guān)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(jīng)母細(xì)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(tǒng)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(jīng)病 |
| Ceroid Lipofuscinosis, Neuronal, 11 | 蠟樣脂褐質(zhì)沉積癥（神經(jīng)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(luò)膜炎 |
| T-Cell Acute Lymphoblastic Leukemia | T細(xì)胞急性淋巴細(xì)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(jīng)變性 |
| Primary Hyperoxaluria | 原發(fā)性高草酸尿癥 |
| Auditory Neuropathy and Optic Atrophy | 聽覺神經(jīng)病變和視神經(jīng)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(luò)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(xì)胞白血病 |
| Mast Cell Neoplasm | 肥大細(xì)胞腫瘤 |
| Orbital Cellulitis | 眼眶蜂窩織炎 |
| Multiple System Atrophy | 多系統(tǒng)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(xì)胞減少癥 |
| Cryopyrin-Associated Periodic Syndrome | 冷熱蛋白相關(guān)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(jīng)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(xì)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(zhì)密度數(shù)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(zhì)腫瘤 |
| Lymphoplasmacytic Lymphoma | 淋巴漿細(xì)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(dòng)靜脈同分異構(gòu)體綜合征 |
| Distal Arthrogryposis | 遠(yuǎn)端關(guān)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(zhì)密度數(shù)量性狀位點(diǎn)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(xì)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(xì)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(dòng)脈導(dǎo)管未閉 |
| Ceroid Lipofuscinosis, Neuronal, 10 | 神經(jīng)元蠟樣脂褐質(zhì)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(xì)胞癌 |
| Microphthalmia/coloboma 12 | 小眼畸形/缺損 12 |
| Cone-Rod Dystrophy and Hearing Loss 1 | 視錐-視桿細(xì)胞營養(yǎng)不良和聽力損失 1 |
| Basal Cell Carcinoma | 基底細(xì)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(cè)或雙側(cè)隱睪雙側(cè) |
| Sveinsson Chorioretinal Atrophy | Sveinsson脈絡(luò)膜視網(wǎng)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(lán)色盲 |
| Cystic Fibrosis | 囊性纖維化 |
| Neurilemmoma | 神經(jīng)鞘瘤 |
| Duane Retraction Syndrome 1 | 杜安眼球退縮綜合征1 |
| Osteoporosis-Pseudoglioma Syndrome | 骨質(zhì)疏松癥-假性神經(jīng)膠質(zhì)瘤綜合征 |
| Exudative Vitreoretinopathy 6 | 滲出性玻璃體視網(wǎng)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(yùn)動(dòng)神經(jīng)元病 |
| Progressive Supranuclear Palsy | 進(jìn)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 | 色素性干皮病（變異型） |
| Bradyopsia | 視遲鈍 |
| Trichomegaly | 毛發(fā)增多癥 |
| Ring Chromosome 5 | 5號(hào)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(jīng)炎 |
| Neurodevelopmental Disorder with Visual Defects and Brain Anomalies | 伴有視覺缺陷和腦異常的神經(jīng)發(fā)育障礙 |
| Neuromuscular Disease | 神經(jīng)肌肉疾病 |
| Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome | 先天性鐵粒幼細(xì)胞貧血-B細(xì)胞免疫缺陷-周期性發(fā)熱-發(fā)育遲緩綜合征 |
| Cortical Blindness | 皮質(zhì)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(dòng)脈高壓1 |
| Bardet-Biedl Syndrome 22 | Bardet-Biedl綜合征22 |
| Anorexia Nervosa | 神經(jīng)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(xì)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(fù)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(jìn)行性肌陣攣癲癇 |
| Tertiary Neurosyphilis | 三期神經(jīng)梅毒 |
| Amenorrhea | 閉經(jīng) |
| Pseudopapilledema | 假性視乳頭水腫 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 | 線粒體復(fù)合物I缺乏癥，核型1 |
| Auditory Neuropathy | 聽覺神經(jīng)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(wǎng)膜病變，中央周圍色素性，顯性遺傳 |
| Keratoconjunctivitis Sicca | 干燥性角結(jié)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(dòng)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(jìn)行性非感染性前椎融合術(shù) |
| 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(zhì)沉著癥 |
| Bilateral Retinoblastoma | 雙側(cè)視網(wǎng)膜母細(xì)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(xì)胞營養(yǎng)不良和聽力損失 2 |
| Age-Related Hearing Loss | 年齡相關(guān)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(jīng)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(xì)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(jì)失調(diào) 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(lián)合免疫缺陷 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | 硫胺素反應(yīng)性巨幼細(xì)胞性貧血綜合征 |
| Common Cold | 普通感冒 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 | 線粒體復(fù)合物 IV 缺乏癥，核型 1 |
| Basal Cell Carcinoma 1 | 基底細(xì)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(xì)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(fēng)疹綜合征 |
| Corneal Endothelial Dystrophy | 角膜內(nèi)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(xì)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(fù)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(dòng)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(jīng)管缺陷 |
| Renal Cell Carcinoma | 腎細(xì)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(dòng)脈瓣關(guān)閉不全 |
| Usher Syndrome, Type Ik | Usher綜合征，Ik型 |
| Arthrogryposis Syndrome | 關(guān)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(nèi)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(nèi)膜炎 |
| Adrenal Gland Disease | 腎上腺疾病 |
| Optic Pathway Glioma | 視神經(jīng)膠質(zhì)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(xì)胞性貧血 |
| Iga Nephropathy 1 | IGA腎病1 |
| Interstitial Lung Disease | 間質(zhì)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(lián)癥 |
| Hemifacial Atrophy, Progressive | 進(jìn)行性半顏面萎縮 |
| Ring Chromosome 14 Syndrome | 14號(hào)環(huán)狀染色體綜合征 |
| Ras-Associated Autoimmune Leukoproliferative Disorder | Ras相關(guān)自身免疫性白細(xì)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(jīng)典型視神經(jīng)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(zhì)營養(yǎng)不良 |
| Arthropathy | 關(guān)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(zé)任編輯：佳學(xué)基因)
