Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
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Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
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Ectopia lentis |
OMIM:129600 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Stargardt Disease 1 |
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Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Iris Pigment Layer, Cleavage Of |
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Cataract, Peripheral retinal detachment |
OMIM:147610 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Exudative Vitreoretinopathy 6 |
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Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Coats Disease |
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Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Wagner Vitreoretinopathy |
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Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Corneal Dystrophy, Groenouw Type I |
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Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 40 |
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Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Exudative Vitreoretinopathy 7 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Cataract 21, Multiple Types |
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Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Exudative Vitreoretinopathy 5 |
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Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
Retinitis Pigmentosa 84 |
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Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Birdshot Chorioretinopathy |
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Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Retinitis Pigmentosa 9 |
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Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Stickler Syndrome Type 2 |
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Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Retinitis Pigmentosa 13 |
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Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Megalocornea |
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Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Late-Onset Retinal Degeneration |
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Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Cone-Rod Dystrophy 16 |
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Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
X-Linked Retinal Dysplasia |
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Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Microspherophakia With Hernia |
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Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Myopia 17, Autosomal Dominant |
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Presenile cataracts, Retinal hole |
OMIM:608367 |
Familial Drusen |
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Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Exfoliation Syndrome |
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Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Retinitis Pigmentosa 4 |
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Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Cataract-Microcornea Syndrome |
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Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Retinal Dystrophy And Obesity |
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Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Anterior Segment Dysgenesis 8 |
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Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Ectopia Lentis Et Pupillae |
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Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Aniridia-Intellectual Disability Syndrome |
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Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Congenital Primary Aphakia |
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Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
Aniridia 2 |
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Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Exudative Vitreoretinopathy 1 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Retinitis Pigmentosa 70 |
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Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Leber Congenital Amaurosis 8 |
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Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Retinitis Pigmentosa 86 |
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Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Exudative Vitreoretinopathy 4 |
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Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Retinitis Pigmentosa 77 |
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Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Aniridia, Microcornea |
OMIM:106230 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
Isolated Aniridia |
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Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Cataract 10, Multiple Types |
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Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Autosomal Dominant Keratitis |
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Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Norrie Disease |
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Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Cataract 1, Multiple Types |
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Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Coats Disease |
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Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Cataract 3, Multiple Types |
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Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Cataract 16, Multiple Types |
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Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Coloboma, Ocular, Autosomal Recessive |
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Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Enhanced S-Cone Syndrome |
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Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Cataract 5, Multiple Types |
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Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Cataract 20, Multiple Types |
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Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Oculoauricular Syndrome |
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Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Anterior Segment Dysgenesis 2 |
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Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Persistent Hyperplastic Primary Vitreous |
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Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Cataract 39, Multiple Types |
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Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Cataract 33, Multiple Types |
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Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Cataract 15, Multiple Types |
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Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |