| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
| 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 |
| 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 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
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, Conjunctival hyperemia, Epiretinal membrane |
OMIM:148200 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy |
OMIM:210370 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... |
OMIM:310600 |
| Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
| Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
| Aniridia 1 |
|
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n... |
OMIM:106210 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy |
ORPHA:411629 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals, Hypovolemia |
ORPHA:411634 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula |
OMIM:256540 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma, Angina pectoris |
ORPHA:425 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
| Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Hyperopic astigmatism, Retinal degeneration, Aortic regurgitation, Opacification of ... |
OMIM:252600 |
| Cystinosis, Nephropathic |
|
Retinopathy, Retinal pigment epithelial mottling, Corneal crystals, Recurrent corneal erosions, P... |
OMIM:219800 |
| Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
| Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Pete... |
OMIM:612582 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... |
OMIM:618815 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
| Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
| Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar... |
OMIM:214110 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
| Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Dystonia, Opacification of the corneal stroma |
OMIM:251290 |
| Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
| Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti... |
OMIM:242900 |
| Scheie Syndrome |
|
Aortic regurgitation, Retinal degeneration, Corneal opacity, Aortic valve stenosis |
OMIM:607016 |
| Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Pulmonic stenosis, Optic atrophy, Microcornea |
OMIM:201000 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
| Neurotrophic Keratopathy |
|
Allodynia, Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent c... |
ORPHA:137596 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Optic atrophy, Heart murmur, Aortic ... |
OMIM:614866 |
| Hurler Syndrome |
|
Retinal degeneration, Aortic regurgitation, Mitral regurgitation, Corneal opacity, Opacification ... |
OMIM:607014 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... |
OMIM:158310 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity |
OMIM:253010 |
| Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Persistent pupillary membrane... |
ORPHA:91495 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Limbal dermoid, Microcornea, Hypertrophic cardiomyopathy, Astigmatism,... |
OMIM:600268 |
| Farber Disease |
|
Abnormal conjunctiva morphology, Macular degeneration, Corneal opacity, Opacification of the corn... |
ORPHA:333 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Corneal arcus, Athetosis, Cataract |
OMIM:219150 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Anterior chamber synechiae, Cataract, Band keratopathy |
ORPHA:85410 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma, Optic disc pallor, Pigmentary re... |
OMIM:214100 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
| Fish-Eye Disease |
|
Corneal opacity, Angina pectoris |
ORPHA:79292 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251300 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Mucopolysaccharidosis Type 3 |
|
Rod-cone dystrophy, Optic atrophy, Reduced left ventricular ejection fraction, Retinal degenerati... |
ORPHA:581 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Telan... |
ORPHA:79280 |
| Cockayne Syndrome B |
|
Optic atrophy, Hypoplasia of the iris, Hypertension, Developmental cataract, Microcornea, Tremor,... |
OMIM:133540 |
| Xeroderma Pigmentosum |
|
Telangiectasia, Optic atrophy, Pterygium, Cataract, Conjunctival telangiectasia, Telangiectasia o... |
ORPHA:910 |
| Blau Syndrome |
|
Iritis, Hypertension, Pericarditis, Cystoid macular edema, Cataract, Band keratopathy |
OMIM:186580 |
| Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Hypertension, Cataract, Trem... |
OMIM:216400 |
| Oculoauricular Syndrome |
|
Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula... |
OMIM:612109 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Lathosterolosis |
|
Cataract, Opacification of the corneal stroma, Microcornea |
ORPHA:46059 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomy... |
OMIM:252500 |
| Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
| Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Pulmonic stenosis |
OMIM:616559 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Supraventricular arrhythmia, Band keratopathy, Cataract |
ORPHA:2959 |
| Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Megalocornea, Optic atrophy, Wolff-Parki... |
ORPHA:137675 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Megalocornea, Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Ret... |
OMIM:253280 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
| Knobloch Syndrome 1 |
|
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Attenuation of retinal ... |
OMIM:267750 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Opacification of the corneal stroma |
OMIM:601559 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin |
ORPHA:2907 |
| Cockayne Syndrome |
|
Retinal hemorrhage, Retinal arteriolar constriction, Lentiglobus, Optic atrophy, Retinal atrophy,... |
ORPHA:191 |
| Bartsocas-Papas Syndrome 1 |
|
Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ... |
OMIM:263650 |
| Dysbetalipoproteinemia |
|
Corneal arcus, Angina pectoris |
ORPHA:412 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Hypertension, Heterochromia iridis, Co... |
ORPHA:1764 |
| Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
| H Syndrome |
|
Abnormal cardiovascular system physiology, Corneal arcus, Facial telangiectasia |
ORPHA:168569 |
| Pseudohypoparathyroidism Type 1A |
|
Conjunctivitis, Choreoathetosis, Hypertension, Prolonged QT interval, Cataract, Laryngeal dystoni... |
ORPHA:79443 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia |
OMIM:615287 |
| Alagille Syndrome 1 |
|
Posterior embryotoxon, Axenfeld anomaly, Microcornea, Cataract, Chorioretinal atrophy, Band kerat... |
OMIM:118450 |
| Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Corneal arcus, Facial telangiectasia, Pulmonic stenosis |
OMIM:602782 |
| Sitosterolemia 1 |
|
Corneal arcus |
OMIM:210250 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Prominent corneal nerve fibers, Hypertrophic cardiomyopathy, Mitral regurgitatio... |
OMIM:616564 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Punctate opacification of the cornea, Congestive heart failure, Arrhythmia |
OMIM:256040 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypertension, Corneal neovascularization, Keratitis, Opacification of the corneal stroma, Recurre... |
OMIM:308205 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Limb dystonia, P... |
OMIM:175780 |
| Proximal Renal Tubular Acidosis |
|
Cataract, Hypovolemia, Band keratopathy |
ORPHA:47159 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Prominent corneal nerve fibers, Hypertension associated with pheochromocytom... |
ORPHA:653 |
| Roberts-Sc Phocomelia Syndrome |
|
Opacification of the corneal stroma, Cataract, Corneal opacity |
OMIM:268300 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Congestive heart failure |
OMIM:608779 |
| Cog7-Cdg |
|
|
ORPHA:79333 |
