Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Corneal Dystrophy, Band-Shaped |
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Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy |
OMIM:615523 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Corneal Degeneration, Band-Shaped Spheroid |
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Corneal degeneration |
OMIM:217520 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Fuchs Endothelial Corneal Dystrophy |
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Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Corneal Dystrophy, Subepithelial Mucinous |
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Corneal dystrophy |
OMIM:612867 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Keratoconus 6 |
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Keratoconus |
OMIM:614623 |
Keratoconus 5 |
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Keratoconus |
OMIM:614622 |
Keratoconus 8 |
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Keratoconus |
OMIM:614628 |
Keratoconus 7 |
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Keratoconus |
OMIM:614629 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Peters Anomaly |
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Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Herpes Simplex Virus Stromal Keratitis |
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Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... |
ORPHA:137599 |
Bilateral Acute Depigmentation Of The Iris |
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Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Megalocornea |
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Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
X-Linked Endothelial Corneal Dystrophy |
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Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Congenital Stromal |
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Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Schnyder Corneal Dystrophy |
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Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Vitreoretinal Degeneration, Snowflake Type |
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Corneal guttata, Cataract |
OMIM:193230 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Leber Congenital Amaurosis 7 |
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Keratoconus, Cataract |
OMIM:613829 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
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Abnormal corneal endothelium morphology, Ocular anterior segment dysgenesis |
OMIM:614195 |
Edict Syndrome |
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Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract |
OMIM:614303 |
Macular Corneal Dystrophy |
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Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Lattice Type I |
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Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Brittle Cornea Syndrome 2 |
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Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Leber Congenital Amaurosis 6 |
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Keratoconus, Cataract |
OMIM:613826 |
Corneal Hypesthesia, Familial |
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Recurrent corneal erosions |
OMIM:122450 |
Posterior Polymorphous Corneal Dystrophy |
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Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Pupillary Membrane, Persistence Of |
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Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Corneal Dystrophy, Groenouw Type I |
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Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Corneal Degeneration, Ribbonlike, With Deafness |
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Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Keratitis, Hereditary |
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Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Brittle Cornea Syndrome 1 |
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Abnormal cornea morphology, Keratoconus, Keratoglobus, Decreased corneal thickness |
OMIM:229200 |
Leber Congenital Amaurosis 4 |
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Keratoconus |
OMIM:604393 |
Ring Dermoid Of Cornea |
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Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
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Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Dermatitis, Atopic |
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Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Cataract |
OMIM:204100 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Glaucoma 3, Primary Congenital, D |
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Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microphthalmia, Isolated 2 |
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Opacification of the corneal stroma |
OMIM:610093 |
Cataract-Microcornea Syndrome |
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Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Leber Congenital Amaurosis |
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Keratoconus, Cataract |
ORPHA:65 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Decreased activity of mitochondrial respiratory chain, Cataract, Developmental cataract |
OMIM:613076 |
Iridocorneal Endothelial Syndrome |
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Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Corneal Dystrophy, Fleck |
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Speckled corneal dystrophy |
OMIM:121850 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Leber Congenital Amaurosis 1 |
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Keratoconus, Cataract |
OMIM:204000 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract |
OMIM:613835 |
Corneal Dystrophy And Perceptive Deafness |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Morquio Syndrome C |
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Corneal opacity |
OMIM:252300 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
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Keratoconus |
OMIM:609438 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
X-Linked Corneal Dermoid |
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Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Retinitis Pigmentosa |
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Keratoconus, Cataract |
ORPHA:791 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology |
OMIM:618378 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
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Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Cataract 1, Multiple Types |
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Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Brittle Cornea Syndrome |
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Corneal scarring, Corneal erosion, Corneal dystrophy, Keratoglobus, Decreased corneal thickness |
ORPHA:90354 |
Corneal Dystrophy, Meesmann, 1 |
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Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Arthrogryposis, Distal, Type 5 |
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Keratoconus, Keratoglobus, Astigmatism |
OMIM:108145 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Phacoanaphylactic Uveitis |
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Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Corneal stromal edema, Anterior cha... |
ORPHA:209959 |
Sclerocornea, Autosomal Dominant |
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Sclerocornea |
OMIM:181700 |
Lattice Corneal Dystrophy Type I |
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Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Abnormal mitochondrial morphology |
OMIM:618528 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Decreased corneal thickness |
ORPHA:293967 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Decreased mitochondrial number |
ORPHA:352470 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Keratoconus |
ORPHA:542306 |
Vernal Keratoconjunctivitis |
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Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Granular Corneal Dystrophy Type Ii |
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Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Granular Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Generalized Eruptive Keratoacanthoma |
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Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Amoebic Keratitis |
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Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis |
OMIM:242150 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Alport Syndrome |
|
Abnormal corneal endothelium morphology, Recurrent corneal erosions, Posterior subcapsular catara... |
ORPHA:63 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ... |
OMIM:500013 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness |
OMIM:618175 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Posterior synechiae of the anterior chamber, Abnormal corneal endothelium morphology, Posterior s... |
ORPHA:364055 |
Nail-Patella Syndrome |
|
Microphakia, Microcornea, Keratoconus, Cataract, Lester's sign, Antecubital pterygium |
OMIM:161200 |
Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Costello Syndrome |
|
Keratoconus |
ORPHA:3071 |
Arterial Tortuosity Syndrome |
|
Keratoconus |
OMIM:208050 |
Gapo Syndrome |
|
Keratoconus |
ORPHA:2067 |
Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Astigmatism |
ORPHA:72 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Abnormality of the mitochondrion |
ORPHA:91130 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
Gapo Syndrome |
|
Keratoconus |
OMIM:230740 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormality of the mitochondrion |
ORPHA:330050 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape, Cataract |
ORPHA:543470 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Keratoglobus |
ORPHA:3342 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Microcornea |
OMIM:225400 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Lacrimoauriculodentodigital Syndrome |
|
Corneal ulceration, Corneal neovascularization, Keratoconjunctivitis, Recurrent corneal erosions,... |
ORPHA:2363 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Decreased activity ... |
ORPHA:17 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Opacification of the corneal stroma, Cataract, Brushfield spots, Abnormality of the mitochondrion |
OMIM:214110 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the mitochondrion |
ORPHA:298 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconjunctivitis sicca, Keratoconus |
ORPHA:285 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus |
OMIM:130050 |
Sialuria |
|
Abnormality of the mitochondrion |
ORPHA:3166 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cataract, Abnormality of mitochondrial metabolism |
ORPHA:314404 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Abnormality of the mitochondrion, Cataract |
ORPHA:254892 |