| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... |
ORPHA:98960 |
| Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
| Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
| Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
| Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... |
OMIM:310600 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
| Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
| Atrial Fibrillation, Familial, 18 |
|
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia |
OMIM:617280 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
| Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy |
OMIM:252650 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... |
ORPHA:41751 |
| Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
| Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
| Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Vasculitis, Posterior synec... |
ORPHA:279914 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... |
OMIM:604772 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... |
OMIM:614021 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Brugada Syndrome |
|
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... |
ORPHA:130 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
| Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Long Qt Syndrome 13 |
|
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
| Familial Short Qt Syndrome |
|
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... |
ORPHA:51083 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... |
ORPHA:1473 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... |
OMIM:616117 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Opacification of the corneal stroma |
OMIM:614230 |
| Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Abnormal cornea morphology, Corneal crystals |
ORPHA:411634 |
| Long Qt Syndrome 15 |
|
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation |
OMIM:616249 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma, Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... |
OMIM:610193 |
| Cystinosis, Nephropathic |
|
Corneal crystals, Retinal pigment epithelial mottling, Retinopathy, Pigmentary retinopathy, Recur... |
OMIM:219800 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula |
OMIM:256540 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... |
OMIM:609621 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Corneal ulceration, Postural hypotension with compensatory tachycard... |
OMIM:256800 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma |
OMIM:169550 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Aortic regurgitation, Hyperopic astigmatism, Retinopathy, Opacification of ... |
OMIM:252600 |
| Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma, Angina pectoris |
ORPHA:425 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Optic nerve dysplasia, Retinal dysplasia |
OMIM:615287 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... |
OMIM:607450 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... |
OMIM:604229 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... |
OMIM:616201 |
| Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... |
OMIM:618815 |
| Progressive Familial Heart Block, Type Ib |
|
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... |
OMIM:604559 |
| Long Qt Syndrome 9 |
|
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia |
OMIM:611818 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Pigmentary retinopathy, ... |
OMIM:612582 |
| Schimke Immunoosseous Dysplasia |
|
Hypertension, Astigmatism, Cerebral ischemia, Transient ischemic attack, Opacification of the cor... |
OMIM:242900 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:614866 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... |
OMIM:214110 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
| Sick Sinus Syndrome 4 |
|
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... |
OMIM:619464 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
| Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
| Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Allody... |
ORPHA:137596 |
| Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... |
OMIM:120200 |
| Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Cataract, Opacification of the corneal stroma, Keratoconjunctivitis, Corneal neovasculari... |
OMIM:158310 |
| Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
| Hurler Syndrome |
|
Retinal degeneration, Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Corneal opacity... |
OMIM:607014 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae |
OMIM:601499 |
| Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... |
OMIM:221900 |
| Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Cataract |
OMIM:251290 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration, Corneal opacity |
OMIM:607016 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Opacification of the corneal stroma, Cataract |
OMIM:211370 |
| Short Qt Syndrome 3 |
|
Palpitations, Shortened QT interval, Tachycardia |
OMIM:609622 |
| Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Microcornea, Optic atrophy, Pulmonic stenosis |
OMIM:201000 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... |
OMIM:152950 |
| Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... |
ORPHA:91495 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Opacification of the corneal stroma, Recurrent corneal erosions, Keratitis |
OMIM:308205 |
| Knobloch Syndrome 1 |
|
Developmental cataract, Vitreoretinopathy, Peripapillary atrophy, Macular hypoplasia, Retinal det... |
OMIM:267750 |
| Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Limbal dermoid, Astigmatism, Transient ischemic attack, Opacificatio... |
OMIM:600268 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Anterior chamber synechiae, Band keratopathy, Cataract |
ORPHA:85410 |
| Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corne... |
OMIM:214100 |
| Farber Disease |
|
Cherry red spot of the macula, Macular degeneration, Corneal opacity, Abnormal conjunctiva morpho... |
ORPHA:333 |
| Mucopolysaccharidosis, Type Ivb |
|
Opacification of the corneal stroma, Aortic valve stenosis |
OMIM:253010 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization |
ORPHA:163934 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Aortic regurgitation, Megalocornea, Congestive heart failure, Opacif... |
OMIM:252500 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma, Mitral stenosis |
OMIM:231005 |
| Fish-Eye Disease |
|
Corneal opacity, Angina pectoris |
ORPHA:79292 |
| Cockayne Syndrome B |
|
Hypertension, Optic atrophy, Hypoplasia of the iris, Tremor, Cataract, Pigmentary retinopathy, Op... |
OMIM:133540 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma, Pulmonary arterial hypertension |
OMIM:601559 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
| Blau Syndrome |
|
Hypertension, Pericarditis, Cystoid macular edema, Cataract, Band keratopathy, Iritis |
OMIM:186580 |
| Cockayne Syndrome A |
|
Hypertension, Optic atrophy, Retinal pigment epithelial mottling, Tremor, Cataract, Pigmentary re... |
OMIM:216400 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Retinal degeneration, Reduced ejection fraction, Atrioventricular block, Rod-cone ... |
ORPHA:581 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Telangiectasia of the skin, Telangiectasia of the oral mucos... |
ORPHA:79280 |
| Mucopolysaccharidosis, Type Vi |
|
Opacification of the corneal stroma, Cardiomyopathy |
OMIM:253200 |
| Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... |
OMIM:612109 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Opacification of the corneal stroma, Cataract, Hypoplasia of the iris |
OMIM:251300 |
| Xeroderma Pigmentosum |
|
Telangiectasia, Optic atrophy, Conjunctival telangiectasia, Telangiectasia of the skin, Keratitis... |
ORPHA:910 |
| Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
| Lathosterolosis |
|
Opacification of the corneal stroma, Microcornea, Cataract |
ORPHA:46059 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Buphthalmos, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Ca... |
OMIM:253280 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Band keratopathy, Cataract, Supraventricular arrhythmia |
ORPHA:2959 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... |
ORPHA:137675 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratoconjunctivitis sicca, Corneal scarring, Abnormality of corneal stroma, Corneal ulceration, ... |
OMIM:148210 |
| Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Pulmonic stenosis |
OMIM:616559 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Corneal arcus, Cataract |
OMIM:219150 |
| Cockayne Syndrome |
|
Keratoconjunctivitis sicca, Hypertension, Developmental cataract, Abnormality of retinal pigmenta... |
ORPHA:191 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin |
ORPHA:2907 |
| Familial Dysautonomia |
|
Hypertension, Optic atrophy, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia... |
ORPHA:1764 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Band keratopathy, Cataract, Keratoconjunctivitis |
OMIM:269200 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Angina pectoris |
ORPHA:412 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... |
OMIM:263650 |
| Lathosterolosis |
|
Opacification of the corneal stroma, Cataract |
OMIM:607330 |
| H Syndrome |
|
Facial telangiectasia, Abnormal cardiovascular system physiology, Corneal arcus |
ORPHA:168569 |
| Alagille Syndrome 1 |
|
Posterior embryotoxon, Axenfeld anomaly, Cataract, Chorioretinal atrophy, Pigmentary retinopathy,... |
OMIM:118450 |
| Pseudohypoparathyroidism Type 1A |
|
Hypertension, Prolonged QT interval, Cataract, Band keratopathy, Conjunctivitis |
ORPHA:79443 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Corneal arcus, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:602782 |
| Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
| Noonan Syndrome 10 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Pulmonic stenosis, Prominent ... |
OMIM:616564 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Punctate opacification of the cornea, Arrhythmia, Congestive heart failure, Conjunctivitis |
OMIM:256040 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Developmental cataract, Retinal arteriolar tortuosity, Polycoria, Hypoplasia... |
OMIM:175780 |
| Proximal Renal Tubular Acidosis |
|
Hypovolemia, Band keratopathy, Cataract |
ORPHA:47159 |
| Multiple Endocrine Neoplasia Type 2 |
|
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma, Prominent corne... |
ORPHA:653 |
| Roberts-Sc Phocomelia Syndrome |
|
Opacification of the corneal stroma, Cataract |
OMIM:268300 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Congestive heart failure |
OMIM:608779 |
| Cog7-Cdg |
|
|
ORPHA:79333 |
