Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Retinitis Pigmentosa 29 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Eales Disease |
|
Vitreous hemorrhage, Iris neovascularization, Ischemic stroke, Macular edema, Vitritis, Transient... |
ORPHA:40923 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Retinal neova... |
OMIM:193220 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Corneal Dystrophy, Lattice Type Iiia |
|
Lattice corneal dystrophy, Corneal erosion |
OMIM:608471 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... |
ORPHA:90050 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema |
OMIM:617272 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomenon, Abnormal ret... |
ORPHA:247691 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Keratoconus 9 |
|
Decreased corneal thickness, Keratoconus |
OMIM:617928 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma, Angina pectoris |
ORPHA:425 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals, Hypovolemia |
ORPHA:411634 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea |
OMIM:611544 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... |
OMIM:618815 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Pete... |
OMIM:612582 |
Bietti Crystalline Dystrophy |
|
Crystalline corneal dystrophy |
ORPHA:41751 |
Cystinosis, Nephropathic |
|
Recurrent corneal erosions, Corneal crystals |
OMIM:219800 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Anterior chamber synechiae, Cataract, Band keratopathy |
ORPHA:85410 |
Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti... |
OMIM:242900 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... |
OMIM:158310 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Telan... |
ORPHA:79280 |
Intermediate Uveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy, Vasculitis |
ORPHA:279914 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity |
OMIM:253010 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Pulmonic stenosis, Microcornea |
OMIM:201000 |
Scheie Syndrome |
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Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Hurler Syndrome |
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Aortic regurgitation, Mitral regurgitation, Corneal opacity, Opacification of the corneal stroma,... |
OMIM:607014 |
Gaucher Disease, Type Iiic |
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Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Oculoectodermal Syndrome |
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Transient ischemic attack, Limbal dermoid, Microcornea, Astigmatism, Hypertrophic cardiomyopathy,... |
OMIM:600268 |
Mucopolysaccharidosis Type 6 |
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Opacification of the corneal stroma |
ORPHA:583 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
Noonan Syndrome 9 |
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Prominent corneal nerve fibers, Pulmonic stenosis |
OMIM:616559 |
Farber Disease |
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Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma |
ORPHA:333 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Cataract, Corneal arcus |
OMIM:219150 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Brushfield spots, Heart murmur, Aortic regurgitation, Cataract, Mitral regurgitation, Opacificati... |
OMIM:614866 |
Lathosterolosis |
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Cataract, Opacification of the corneal stroma, Microcornea |
ORPHA:46059 |
Mucopolysaccharidosis, Type Iva |
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Opacification of the corneal stroma |
OMIM:253000 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Brittle Cornea Syndrome 1 |
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Decreased corneal thickness, Keratoconus, Keratoglobus, Abnormal cornea morphology |
OMIM:229200 |
Xeroderma Pigmentosum |
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Telangiectasia, Pterygium, Cataract, Conjunctival telangiectasia, Telangiectasia of the skin, Ker... |
ORPHA:910 |
Mucolipidosis Ii Alpha/Beta |
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Megalocornea, Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomy... |
OMIM:252500 |
Galloway-Mowat Syndrome 1 |
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Hypoplasia of the iris, Opacification of the corneal stroma, Cataract |
OMIM:251300 |
Bartsocas-Papas Syndrome 2 |
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Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Mosaic Trisomy 1 |
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Opacification of the corneal stroma |
ORPHA:1692 |
Blau Syndrome |
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Iritis, Hypertension, Pericarditis, Cataract, Band keratopathy |
OMIM:186580 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Cataract, Band keratopathy, Supraventricular arrhythmia |
ORPHA:2959 |
Mucopolysaccharidosis Type 3 |
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Reduced left ventricular ejection fraction, Cataract, Atrioventricular block, Corneal opacity, Op... |
ORPHA:581 |
Hereditary Acrokeratotic Poikiloderma |
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Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin |
ORPHA:2907 |
Stuve-Wiedemann Syndrome 1 |
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Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:601559 |
Cockayne Syndrome B |
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Hypoplasia of the iris, Hypertension, Developmental cataract, Microcornea, Arrhythmia, Opacificat... |
OMIM:133540 |
Persistent Hyperplastic Primary Vitreous |
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Hemorrhage of the eye, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ante... |
ORPHA:91495 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Dysbetalipoproteinemia |
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Corneal arcus, Angina pectoris |
ORPHA:412 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
Bartsocas-Papas Syndrome 1 |
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Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ... |
OMIM:263650 |
Lathosterolosis |
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Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
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Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Cockayne Syndrome A |
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Opacification of the corneal stroma, Hypertension, Cataract, Arrhythmia |
OMIM:216400 |
H Syndrome |
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Abnormal cardiovascular system physiology, Corneal arcus, Facial telangiectasia |
ORPHA:168569 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma |
OMIM:253280 |
Sitosterolemia 1 |
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Corneal arcus |
OMIM:210250 |
Coloboma, Ocular, Autosomal Dominant |
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Peters anomaly, Corneal opacity |
OMIM:120200 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pulmonary arterial hypertension, Corneal arcus, Facial telangiectasia, Pulmonic stenosis |
OMIM:602782 |
Alagille Syndrome 1 |
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Posterior embryotoxon, Axenfeld anomaly, Microcornea, Cataract, Band keratopathy, Abnormal anteri... |
OMIM:118450 |
Noonan Syndrome 10 |
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Mitral stenosis, Prominent corneal nerve fibers, Hypertrophic cardiomyopathy, Mitral regurgitatio... |
OMIM:616564 |
Pseudohypoparathyroidism Type 1A |
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Conjunctivitis, Hypertension, Prolonged QT interval, Cataract, Band keratopathy |
ORPHA:79443 |
Fryns Syndrome |
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Opacification of the corneal stroma |
OMIM:229850 |
Knobloch Syndrome 1 |
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Iris transillumination defect, Developmental cataract, Lens subluxation, Band keratopathy, Cortic... |
OMIM:267750 |
Cockayne Syndrome |
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Retinal hemorrhage, Lentiglobus, Keratoconjunctivitis sicca, Hypertension, Developmental cataract... |
ORPHA:191 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Hypertension, Corneal neovascularization, Keratitis, Opacification of the corneal stroma, Recurre... |
OMIM:308205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Proximal Renal Tubular Acidosis |
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Cataract, Hypovolemia, Band keratopathy |
ORPHA:47159 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Conjunctivitis, Punctate opacification of the cornea, Congestive heart failure, Arrhythmia |
OMIM:256040 |
Roberts-Sc Phocomelia Syndrome |
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Opacification of the corneal stroma, Cataract, Corneal opacity |
OMIM:268300 |
Multiple Endocrine Neoplasia Type 2 |
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Hypertensive crisis, Hypertension associated with pheochromocytoma, Prominent corneal nerve fiber... |
ORPHA:653 |