| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
| Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
| Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
| Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| 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 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
| Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... |
ORPHA:67043 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope |
OMIM:614896 |
| Mucolipidosis Iv |
|
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia |
OMIM:252650 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
| Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
| Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Cherubism |
|
Optic neuropathy, Macular scar, Marcus Gunn pupil |
OMIM:118400 |
| Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Cataract, Epi... |
ORPHA:279914 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Hepatic Lipase Deficiency |
|
Angina pectoris, Corneal arcus |
OMIM:614025 |
| Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals |
ORPHA:411629 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... |
OMIM:614916 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Ventricular fibrillation, Syncope |
OMIM:603829 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
| Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma |
OMIM:252605 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Abnormal cornea morphology, Corneal crystals |
ORPHA:411634 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula |
OMIM:256540 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma |
OMIM:169550 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinal degeneration, Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Ao... |
OMIM:252600 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... |
ORPHA:137902 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
| Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Retinopathy, Recurrent corneal erosions, Pigmentary retinopa... |
OMIM:219800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Retinal dysplasia, Optic nerve dysplasia |
OMIM:615287 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... |
OMIM:618815 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Pigmentary retinopa... |
OMIM:612582 |
| Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... |
ORPHA:137599 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplasia, Cataract, Bru... |
OMIM:614866 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplasia, Cataract, Bru... |
OMIM:214110 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Cataract |
ORPHA:3453 |
| Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... |
OMIM:158310 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... |
OMIM:120200 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
| Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma |
OMIM:113470 |
| Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
| Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Cataract, Dystonia |
OMIM:251290 |
| Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
| Schimke Immunoosseous Dysplasia |
|
Opacification of the corneal stroma, Cerebral ischemia, Astigmatism, Hypertension, Transient isch... |
OMIM:242900 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
| Scheie Syndrome |
|
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Aortic regurgitation |
OMIM:607016 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Corneal arcus, Athetosis |
OMIM:219150 |
| Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Opacification of the corneal stroma, Cataract |
OMIM:211370 |
| Carpenter Syndrome 1 |
|
Optic atrophy, Pulmonic stenosis, Opacification of the corneal stroma, Microcornea |
OMIM:201000 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
| Neurotrophic Keratopathy |
|
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... |
ORPHA:137596 |
| Hurler Syndrome |
|
Corneal opacity, Retinal degeneration, Mitral regurgitation, Opacification of the corneal stroma,... |
OMIM:607014 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... |
OMIM:152950 |
| Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions |
OMIM:308205 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Oculoectodermal Syndrome |
|
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Transient ischemic... |
OMIM:600268 |
| Farber Disease |
|
Corneal opacity, Cherry red spot of the macula, Macular degeneration, Opacification of the cornea... |
ORPHA:333 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:253010 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Anterior chamber synechiae, Band keratopathy, Cataract |
ORPHA:85410 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Opacification of the corneal stroma, Pigmentary retinopathy, Optic disc pallor, Cataract, Brushfi... |
OMIM:214100 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca |
ORPHA:163934 |
| Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
| Mucopolysaccharidosis Type 3 |
|
Corneal opacity, Retinal degeneration, Rod-cone dystrophy, Opacification of the corneal stroma, P... |
ORPHA:581 |
| Galloway-Mowat Syndrome 1 |
|
Opacification of the corneal stroma, Optic atrophy, Hypoplasia of the iris, Cataract, Dystonia |
OMIM:251300 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
| Blau Syndrome |
|
Band keratopathy, Cystoid macular edema, Iritis, Cataract, Hypertension, Pericarditis |
OMIM:186580 |
| Cockayne Syndrome B |
|
Opacification of the corneal stroma, Microcornea, Pigmentary retinopathy, Arrhythmia, Optic atrop... |
OMIM:133540 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Opacification of the corneal stroma, Telangiectas... |
ORPHA:79280 |
| Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
| Cockayne Syndrome A |
|
Retinal pigment epithelial mottling, Opacification of the corneal stroma, Pigmentary retinopathy,... |
OMIM:216400 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Xeroderma Pigmentosum |
|
Keratitis, Telangiectasia of the skin, Conjunctival telangiectasia, Opacification of the corneal ... |
ORPHA:910 |
| Mucolipidosis Ii Alpha/Beta |
|
Mitral regurgitation, Megalocornea, Opacification of the corneal stroma, Heart murmur, Aortic reg... |
OMIM:252500 |
| Lathosterolosis |
|
Opacification of the corneal stroma, Cataract, Microcornea |
ORPHA:46059 |
| Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the retina, Retinal degeneration, Buphthalmos, Megalocornea, Opacification of the c... |
OMIM:253280 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Prominent corneal nerve fibers |
OMIM:616559 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Wolff-Parkinson-White syndrome, Supraventricular tachycardia... |
ORPHA:137675 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia, Band keratopathy, Cataract |
ORPHA:2959 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
| Knobloch Syndrome 1 |
|
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachment, Attenuation of ret... |
OMIM:267750 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:601559 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Keratoconjunctivitis, Opacification of the corneal stroma |
ORPHA:2907 |
| Cockayne Syndrome |
|
Corneal ulceration, Abnormal cornea morphology, Action tremor, Band keratopathy, Retinal degenera... |
ORPHA:191 |
| Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Opacification of the corneal stroma, Popliteal pterygium, Axillary pterygium,... |
OMIM:263650 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Tachycardia, Optic atrophy, ... |
ORPHA:1764 |
| Dysbetalipoproteinemia |
|
Angina pectoris, Corneal arcus |
ORPHA:412 |
| Lathosterolosis |
|
Opacification of the corneal stroma, Cataract |
OMIM:607330 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Keratoconjunctivitis, Band keratopathy, Cataract |
OMIM:269200 |
| H Syndrome |
|
Abnormal cardiovascular system physiology, Facial telangiectasia, Corneal arcus |
ORPHA:168569 |
| Pseudohypoparathyroidism Type 1A |
|
Band keratopathy, Laryngeal dystonia, Prolonged QT interval, Choreoathetosis, Cataract, Hypertens... |
ORPHA:79443 |
| Alagille Syndrome 1 |
|
Band keratopathy, Abnormal anterior chamber morphology, Axenfeld anomaly, Chorioretinal atrophy, ... |
OMIM:118450 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonic stenosis, Pulmonary arterial hypertension, Facial telangiectasia, Corneal arcus |
OMIM:602782 |
| Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Pulmonic stenosis, Mitral regurgitation, Prominent corneal nerve fibers, Hypertr... |
OMIM:616564 |
| Sitosterolemia 1 |
|
Corneal arcus |
OMIM:210250 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Punctate opacification of the cornea, Conjunctivitis, Arrhythmia, Congestive heart failure |
OMIM:256040 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Mi... |
OMIM:175780 |
| Proximal Renal Tubular Acidosis |
|
Hypovolemia, Band keratopathy, Cataract |
ORPHA:47159 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertension associated with pheochromocytoma, Palpitations, Prominent corneal nerve fibers, Hype... |
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 |
