Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Persistent pupillary membrane, Cataract |
OMIM:620253 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia |
ORPHA:1068 |
Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Cataract, Optic disc pallor |
OMIM:165300 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Aniridia 2 |
|
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma |
OMIM:617141 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Cataract 10, Multiple Types |
|
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract |
OMIM:600881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... |
OMIM:225200 |
Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract |
OMIM:116200 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Coats Disease |
|
Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:190 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Cataract 9, Multiple Types |
|
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract |
OMIM:614292 |
Cataract 21, Multiple Types |
|
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... |
OMIM:610202 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Cataract 3, Multiple Types |
|
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract |
OMIM:601547 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Corneal opacity, Cataract |
ORPHA:90654 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:618220 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... |
OMIM:143200 |
Cataract 5, Multiple Types |
|
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116800 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy, Cataract |
OMIM:620312 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Retinitis Pigmentosa 4 |
|
Cataract, Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy |
OMIM:613731 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea |
OMIM:611544 |
Morm Syndrome |
|
Cataract, Retinal atrophy |
ORPHA:75858 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Microphthalmia, Isolated 5 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... |
OMIM:604307 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation |
ORPHA:171844 |
Cataract 31, Multiple Types |
|
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... |
ORPHA:91495 |
Cone-Rod Dystrophy 16 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy, Optic disc pallor |
OMIM:614500 |
Cataract 30, Multiple Types |
|
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract |
OMIM:116300 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract |
OMIM:614284 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy |
OMIM:613835 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract |
OMIM:116100 |
Coloboma, Ocular, Autosomal Recessive |
|
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... |
OMIM:221900 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Optic disc pallor |
OMIM:204100 |
Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Norrie Disease |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... |
OMIM:310600 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Microphthalmia/Coloboma 12 |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... |
OMIM:120200 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma |
OMIM:212550 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris |
OMIM:614303 |
Hyperferritinemia With Or Without Cataract |
|
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract |
OMIM:600886 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Cataract 6, Multiple Types |
|
Developmental cataract, Posterior polar cataract |
OMIM:116600 |
Cataract 16, Multiple Types |
|
Lenticonus, Developmental cataract, Posterior polar cataract |
OMIM:613763 |
Exudative Vitreoretinopathy 6 |
|
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... |
OMIM:616468 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Retinal coloboma |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma |
ORPHA:363741 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,... |
ORPHA:263479 |
Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ... |
OMIM:106210 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... |
OMIM:609049 |
Oculoauricular Syndrome |
|
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti... |
OMIM:612109 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... |
OMIM:614643 |
Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy |
OMIM:268100 |
Atelis Syndrome 2 |
|
Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
Sympathetic Ophthalmia |
|
Retinal detachment, Anterior chamber cells, Retinal hemorrhage, Papilledema, Corneal keratic prec... |
ORPHA:79098 |
Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... |
ORPHA:649 |
Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Neuroocular Syndrome |
|
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |