Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Spinocerebellar Ataxia 41 |
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Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Dystrophy, Lattice Type I |
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Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
Ring Dermoid Of Cornea |
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Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Pupillary Membrane, Persistence Of |
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Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly |
OMIM:611638 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Glaucoma 3, Primary Congenital, D |
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Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Keratitis, Hereditary |
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Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
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Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Corneal Dystrophy, Lattice Type Iiia |
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Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Corneal Dystrophy And Perceptive Deafness |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Lattice Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Microphthalmia, Syndromic 12 |
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Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
Corneal Dystrophy, Fleck |
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Speckled corneal dystrophy |
OMIM:121850 |
Corneal Dystrophy, Congenital Stromal |
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Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Keratoconus 1 |
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Keratoconus, Astigmatism |
OMIM:148300 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Orbital encephalocele, Anophthalmia, Dandy-Walker malformation |
OMIM:164180 |
Cataract 1, Multiple Types |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Cataract 21, Multiple Types |
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Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Anencephaly 2 |
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Anophthalmia, Anencephaly |
OMIM:619452 |
Morquio Syndrome C |
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Corneal opacity |
OMIM:252300 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Cornea Plana 2, Autosomal Recessive |
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Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Bilateral Acute Depigmentation Of The Iris |
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Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Corneal Dystrophy, Meesmann, 1 |
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Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Anterior Segment Dysgenesis 3 |
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Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Herpes Simplex Virus Stromal Keratitis |
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Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Meckel Syndrome, Type 8 |
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Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:613885 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Granular Corneal Dystrophy Type Ii |
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Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
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Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Granular Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Rutherfurd Syndrome |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Epithelial Recurrent Erosion Dystrophy |
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Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Hydrolethalus |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Anencephaly |
ORPHA:2189 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Edict Syndrome |
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Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Spina bifida |
ORPHA:1104 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Vernal Keratoconjunctivitis |
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Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Matthew-Wood Syndrome |
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Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann... |
ORPHA:2470 |
Fuchs Endothelial Corneal Dystrophy |
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Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Walker-Warburg Syndrome |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Dandy-Walker malformation, Ventriculomegaly |
ORPHA:899 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
Trisomy 13 |
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Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Trisomy 1Q |
|
Hydrocephalus, Anophthalmia, Ventriculomegaly |
ORPHA:261344 |
Brittle Cornea Syndrome 2 |
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Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Meckel Syndrome |
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Encephalocele, Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic ... |
ORPHA:564 |
Cockayne Syndrome Type 2 |
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Hepatomegaly, Anophthalmia |
ORPHA:90322 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Generalized Eruptive Keratoacanthoma |
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Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Posterior Polymorphous Corneal Dystrophy |
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Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Vacterl With Hydrocephalus |
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Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microphthalmia |
ORPHA:3412 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Dandy-Walke... |
OMIM:605627 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hypoplastic spleen |
OMIM:601186 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Anophthalmia |
ORPHA:90321 |
Holoprosencephaly |
|
Encephalocele, Anophthalmia, Abnormality of the spleen, Hydrocephalus, Spinal dysraphism, Holopro... |
ORPHA:2162 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia |
OMIM:610829 |
Fibular Hemimelia |
|
Anophthalmia, Spina bifida |
ORPHA:93323 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Ventriculomegaly |
ORPHA:264200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly |
OMIM:615636 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Hepatomegaly |
ORPHA:2538 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Holoprosencephaly, Microphthalmia, Ventriculomegaly |
ORPHA:141099 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Myelomeningocele, Bilateral microphthalmos, Hydrocephalus |
OMIM:219000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:2556 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Microphthalmia, Dandy-Walker malformation |
ORPHA:138 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Focal Dermal Hypoplasia |
|
Anophthalmia, Hydrocephalus, Myelomeningocele, Aniridia, Microphthalmia, Spina bifida occulta |
OMIM:305600 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, True anophthalmia |
ORPHA:1106 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Dandy-Walker malformation |
OMIM:300166 |
Fraser Syndrome |
|
Encephalocele, Microphthalmia, Myelomeningocele, Anophthalmia |
ORPHA:2052 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Ventriculomegaly |
OMIM:607932 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Holoprosencephaly |
OMIM:214800 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
Primary Dystonia, Dyt6 Type |
|
|
ORPHA:98806 |
Dystonia 6, Torsion |
|
|
OMIM:602629 |