Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Corneal Dystrophy, Lattice Type Iiia |
|
Lattice corneal dystrophy, Corneal erosion |
OMIM:608471 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Keratoconus 9 |
|
Decreased corneal thickness, Keratoconus |
OMIM:617928 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon |
ORPHA:1473 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:137902 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism |
OMIM:152950 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea |
OMIM:615145 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
Microphthalmia With Brain And Digit Anomalies |
|
Iris coloboma, Cataract, Sclerocornea, Microcornea |
ORPHA:139471 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Zellweger Syndrome |
|
Brushfield spots, Cataract, Corneal opacity, Posterior embryotoxon |
ORPHA:912 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Walker-Warburg Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:899 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity |
ORPHA:309288 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity |
OMIM:301056 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia |
OMIM:612469 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Cardiac Valvular Dysplasia 1 |
|
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... |
OMIM:212093 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal opacity, Heterochromia iridis, Corneal erosion |
ORPHA:1764 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
3Q29 Microduplication Syndrome |
|
Iris coloboma, Sclerocornea, Aniridia, Cataract |
ORPHA:251038 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Corneal opacity, Ocular albinism |
ORPHA:2719 |
Mucopolysaccharidosis, Type Ivb |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:253010 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea |
OMIM:601499 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Gm1 Gangliosidosis |
|
Corneal opacity |
ORPHA:354 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac... |
OMIM:612582 |
Stromme Syndrome |
|
Microcornea, Iris coloboma, Peters anomaly, Cataract, Sclerocornea |
OMIM:243605 |
Farber Disease |
|
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma |
ORPHA:333 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Hurler Syndrome |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:607014 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Buphthalmos, Cataract, Peters anomaly, Corneal opacity |
OMIM:236670 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Iris coloboma, Corneal opacity, Ectopia lentis |
ORPHA:2092 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Corneal stromal edema |
OMIM:601812 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity |
ORPHA:464 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity |
ORPHA:579 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Iris coloboma, Megalocornea, Corneal opacity |
ORPHA:536471 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Cataract, Corneal opacity |
ORPHA:309282 |
Mucopolysaccharidosis Type 3 |
|
Corneal opacity, Cataract, Opacification of the corneal stroma |
ORPHA:581 |
Mucoepithelial Dysplasia, Hereditary |
|
Opacification of the corneal stroma, Cataract, Corneal neovascularization, Keratoconjunctivitis |
OMIM:158310 |
Hurler Syndrome |
|
Corneal opacity |
ORPHA:93473 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... |
OMIM:175780 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Carpenter Syndrome 1 |
|
Opacification of the corneal stroma, Microcornea |
OMIM:201000 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Fabry Disease |
|
Corneal dystrophy, Conjunctival telangiectasia, Corneal opacity, Cataract |
ORPHA:324 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Iris coloboma, Peters anomaly, Sclerocornea, Cataract |
OMIM:309801 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:1052 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity |
OMIM:615273 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity |
OMIM:253200 |
Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Corneal opacity |
ORPHA:2396 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Corneal dystrophy, Keratoconjunctivitis sicca, Corneal opacity |
ORPHA:495875 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Lentiglobus, Buphthalmos, Cataract, Corneal opacity |
ORPHA:534 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Ectopia lentis, Ca... |
ORPHA:649 |
Phace Syndrome |
|
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea |
ORPHA:42775 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma, Microcornea |
ORPHA:46059 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Corneal erosion |
ORPHA:920 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Posterior embryotoxon, Sclerocornea |
ORPHA:2556 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Proboscis Lateralis |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:141099 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Oculoectodermal Syndrome |
|
Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Microcornea |
OMIM:600268 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Neurofibromatosis Type 1 |
|
Cataract, Heterochromia iridis, Corneal opacity, Lisch nodules |
ORPHA:636 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Opacification of the corneal stroma, Cataract |
OMIM:251300 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Corneal erosion, Astigmatism, Corneal opacity, Keratitis |
ORPHA:2273 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea, Microcornea |
ORPHA:564 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Limb Body Wall Complex |
|
Lens subluxation, Iris coloboma, Corneal opacity |
ORPHA:2369 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
Peters Plus Syndrome |
|
Anterior chamber synechiae, Microcornea, Iris coloboma, Peters anomaly, Cataract, Corneal opacity |
ORPHA:709 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity |
ORPHA:217085 |
Williams Syndrome |
|
Megalocornea, Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Cataract, Blue irides, Corne... |
ORPHA:904 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity |
ORPHA:217093 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Smith-Lemli-Opitz Syndrome |
|
Iris coloboma, Sclerocornea, Cataract |
ORPHA:818 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Megalocornea, Sclerocornea |
ORPHA:280 |
Osteogenesis Imperfecta |
|
Corneal opacity |
ORPHA:666 |
Wilson Disease |
|
Kayser-Fleischer ring |
OMIM:277900 |
Xeroderma Pigmentosum |
|
Pterygium, Cataract, Conjunctival telangiectasia, Keratitis, Opacification of the corneal stroma |
ORPHA:910 |
Gaucher Disease |
|
Corneal opacity |
ORPHA:355 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity |
ORPHA:2072 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
Bartsocas-Papas Syndrome 1 |
|
Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ... |
OMIM:263650 |
Mucolipidosis Ii Alpha/Beta |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:252500 |
Hutchinson-Gilford Progeria Syndrome |
|
Corneal ulceration, Corneal opacity |
ORPHA:740 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Cockayne Syndrome B |
|
Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract, Microcornea |
OMIM:133540 |
Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity |
ORPHA:3455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma |
OMIM:253280 |
Cockayne Syndrome A |
|
Opacification of the corneal stroma, Cataract |
OMIM:216400 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
Roberts-Sc Phocomelia Syndrome |
|
Opacification of the corneal stroma, Cataract, Corneal opacity |
OMIM:268300 |
Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
Digeorge Syndrome |
|
Posterior embryotoxon, Sclerocornea |
OMIM:188400 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Microcornea |
OMIM:607932 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal neovasculariz... |
OMIM:308205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
OMIM:216340 |