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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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Iris Pigment Layer, Cleavage Of |
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Peripheral retinal detachment, Cataract |
OMIM:147610 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Coats Disease |
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Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Wagner Vitreoretinopathy |
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Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Retinitis Pigmentosa 40 |
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Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Cataract 21, Multiple Types |
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Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Exudative Vitreoretinopathy 5 |
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Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... |
OMIM:613310 |
Retinitis Pigmentosa 84 |
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Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Birdshot Chorioretinopathy |
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Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinitis Pigmentosa 9 |
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Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Stickler Syndrome Type 2 |
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Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Retinitis Pigmentosa 13 |
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Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
Megalocornea |
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Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Late-Onset Retinal Degeneration |
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Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Cone-Rod Dystrophy 16 |
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Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
Myopia 17, Autosomal Dominant |
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Presenile cataracts, Retinal hole |
OMIM:608367 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Retinitis Pigmentosa 4 |
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Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Glaucoma 3, Primary Congenital, D |
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Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Aniridia 2 |
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Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Congenital Primary Aphakia |
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Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Retinitis Pigmentosa 86 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Morning Glory Disc Anomaly |
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Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
Exudative Vitreoretinopathy 4 |
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Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Retinitis Pigmentosa 77 |
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Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
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Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract |
OMIM:616722 |
Isolated Aniridia |
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Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Norrie Disease |
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Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cataract 1, Multiple Types |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Cataract 3, Multiple Types |
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Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Cataract 16, Multiple Types |
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Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract |
OMIM:613763 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Enhanced S-Cone Syndrome |
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Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Oculoauricular Syndrome |
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Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |