Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microphthalmia, Microcornea |
OMIM:251505 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma, Microphthalmia |
OMIM:614497 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Microcornea, Glaucoma, And Absent Frontal Sinuses |
|
Microcornea |
OMIM:156700 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Cataract 11, Multiple Types |
|
Cataract, Blindness, Microphthalmia, Developmental cataract |
OMIM:610623 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
Cataract 7 |
|
Visual loss, Mildly reduced visual acuity, Developmental cataract |
OMIM:115660 |
WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior ... |
ORPHA:83461 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Corneal Dystrophy, Avellino Type |
|
Reduced visual acuity, Lattice corneal dystrophy, Visual impairment |
OMIM:607541 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Developmental glaucoma, Aniridia |
OMIM:206750 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia |
ORPHA:1065 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Reduced visual acuity, Microphthalmia, Visual impairment |
OMIM:616335 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Cataract 9, Multiple Types |
|
Amblyopia, Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Visual i... |
OMIM:604219 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Microcornea |
ORPHA:2432 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
D-Lactic Aciduria With Gout |
|
Aniridia |
OMIM:245450 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft, Microphthalmia |
OMIM:600251 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Hypermetropia, Myopia, Microspherophakia, Ir... |
OMIM:251750 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Generalized hyperpigmentation, Optic atrophy |
ORPHA:2253 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Microphthalmia, Isolated 4 |
|
Coloboma, Microphthalmia |
OMIM:613094 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:120433 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... |
OMIM:217300 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Microp... |
ORPHA:231736 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Isolated Arrhinia |
|
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... |
ORPHA:1134 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Microphthalmia, Corneal opacity, C... |
ORPHA:1473 |
Isolated Split Hand-Split Foot Malformation |
|
Aniridia |
ORPHA:2440 |
Nanophthalmos 4 |
|
Hypermetropia, Reduced visual acuity, Microphthalmia |
OMIM:615972 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Microphthalmia, Isolated 6 |
|
High hypermetropia, Amblyopia, Microphthalmia, Microcornea |
OMIM:613517 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Coats Disease |
|
Leukocoria, Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Hydrocephalus, Developmental cataract, Retinal dysp... |
ORPHA:324416 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Corneal Dystrophy, Lattice Type Iiia |
|
Reduced visual acuity, Lattice corneal dystrophy, Corneal erosion, Visual impairment |
OMIM:608471 |
Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Nasal Bones, Absence Of |
|
Short columella, Narrow naris |
OMIM:161480 |
Cataract 16, Multiple Types |
|
Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Anencephaly 2 |
|
Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate |
OMIM:619452 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Hypogonadism, Microtia, Abnormal... |
ORPHA:3216 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cataract 40 |
|
Sutural cataract, Nuclear cataract |
OMIM:302200 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia |
OMIM:206700 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Corneal Dystrophy, Fleck |
|
Speckled corneal dystrophy |
OMIM:121850 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... |
OMIM:619165 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Macular atrophy, Shallow anterior chamber, Microphthalmia, Cystoid macular ... |
OMIM:267760 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Reduced visual acuity, Blurred vision, Visual impairment, Corneal dystrophy, Photophobia |
OMIM:204870 |
Microphthalmia, Syndromic 13 |
|
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea |
OMIM:300915 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... |
OMIM:601706 |
Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microphthalmia, Microcornea |
ORPHA:2528 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... |
OMIM:612109 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Anophthalmia, Wide nasal bridge, Micrognathia, Broad nasal tip, Microphthalmia |
OMIM:615524 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Gms Syndrome |
|
Rieger anomaly, Tricuspid regurgitation |
ORPHA:2090 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia |
ORPHA:1064 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Glaucoma 1, Open Angle, A |
|
Abnormal iris vasculature |
OMIM:137750 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Coloboma, Microcornea |
OMIM:602499 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Nephroblastoma |
|
Aniridia |
ORPHA:654 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het... |
OMIM:103500 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Microphthalmia |
OMIM:251700 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Frontonasal Dysplasia With Alar Clefts |
|
Underdeveloped nasal alae, Cleft ala nasi |
OMIM:203000 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Congenital Microcoria |
|
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... |
ORPHA:566 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Facial cleft, Spina bifida, Cleft palate, Bilateral cleft li... |
ORPHA:1104 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Micro... |
OMIM:212550 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Myopia, Microphthalmia, Visual impairment |
ORPHA:1574 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema |
ORPHA:1259 |
Leber Congenital Amaurosis 16 |
|
Visual field defect, Photophobia, Cataract, Visual impairment, Reduced visual acuity, Nyctalopia |
OMIM:614186 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Microphthalmia |
OMIM:278780 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy |
OMIM:616410 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioreti... |
ORPHA:139471 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Nystagmus 2, Congenital, Autosomal Dominant |
|
Reduced visual acuity, Mildly reduced visual acuity, Visual impairment |
OMIM:164100 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology |
ORPHA:2119 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... |
OMIM:278730 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Aniridia |
OMIM:194072 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation, Abnormal foveal morphology on macul... |
ORPHA:370097 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Microphthalmia, Optic disc pa... |
OMIM:616171 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
OMIM:601794 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... |
OMIM:203200 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Corneal opacity |
ORPHA:290 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Chylous Ascites |
|
Abnormal intestine morphology, Neoplasm, Pancreatitis |
ORPHA:1160 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Immunodeficiency 10 |
|
Hypoplasia of the iris |
OMIM:612783 |
Hypomyelination-Congenital Cataract Syndrome |
|
Abnormal cerebellum morphology, Developmental cataract |
ORPHA:85163 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Bietti Crystalline Dystrophy |
|
Blindness, Large central visual field defect, Central scotoma, Paracentral scotoma, Crystalline c... |
ORPHA:41751 |
Optic Atrophy 9 |
|
Reduced visual acuity, Red-green dyschromatopsia, Visual impairment, Paracentral scotoma |
OMIM:616289 |
Persistent Placoid Maculopathy |
|
Amblyopia, Hypoplasia of the fovea, Metamorphopsia, Scintillating scotoma, Reduced visual acuity |
ORPHA:97341 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia |
ORPHA:99000 |
Leber Congenital Amaurosis 11 |
|
Reduced visual acuity, Visual impairment |
OMIM:613837 |
3Q29 Microduplication Syndrome |
|
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea |
ORPHA:251038 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormally prominent line of Schwalbe, Rieger anomaly |
OMIM:109120 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Waardenburg Syndrome, Type 2E |
|
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... |
OMIM:611584 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema |
OMIM:617272 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Microphthalmia, Low posterior hairl... |
ORPHA:85194 |
Neovascular Glaucoma |
|
Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Retinal detachmen... |
ORPHA:94058 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Optic nerve hypoplasia, Bilateral microph... |
OMIM:607597 |
Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Reduced visual acuity, Central scotoma |
OMIM:616152 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... |
OMIM:613310 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Astigmatism, Pigmentary retinopathy |
OMIM:268060 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Blindness, Descemet Membrane Folds, Corneal stromal edema, Deep a... |
ORPHA:137599 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Coxoauricular Syndrome |
|
Hearing impairment, Microtia |
OMIM:122780 |
Microphthalmia, Isolated 8 |
|
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... |
OMIM:615113 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... |
ORPHA:33445 |
Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia |
OMIM:616947 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology, Posterior embryotoxon |
ORPHA:782 |
Cerebrooculonasal Syndrome |
|
High palate, Anophthalmia, Facial cleft, Widely spaced teeth, Long philtrum, Microdontia, Solitar... |
ORPHA:66625 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Bornholm Eye Disease |
|
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyeb... |
OMIM:193500 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Ã…land Islands Eye Disease |
|
Astigmatism, Hypoplasia of the fovea, Color vision defect, Myopia, Difficulty adjusting from ligh... |
ORPHA:178333 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Microphthalmia, Aniridia, Death in infancy |
OMIM:602361 |
Frontonasal Dysplasia 3 |
|
Cleft palate, Microphthalmia, Facial cleft |
OMIM:613456 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Macrotia, Hearing impairment, Protruding ear |
OMIM:302905 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
N Syndrome |
|
Megalocornea |
ORPHA:2608 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia |
OMIM:604213 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Blindness, Nyctalopia, Reduced visual acuity |
OMIM:604393 |
2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Microphthalmia, Abnormality iris morphology |
ORPHA:1617 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Underdeveloped nasal alae, Convex nasal ridge, Wide nasal bridge, Cleft ala nasi |
ORPHA:2007 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Cofs Syndrome |
|
Cataract, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Retinal degeneration, Long eyebrows, Long eyelashes, Peripheral axonal neu... |
OMIM:275400 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Developmental cataract |
OMIM:607674 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central ... |
ORPHA:233 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis |
OMIM:608890 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Cataract 17, Multiple Types |
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Amblyopia, Pulverulent cataract, Developmental cataract, Microcornea, Nuclear cataract, Reduced v... |
OMIM:611544 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
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Microtia |
OMIM:611863 |
Gombo Syndrome |
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Microphthalmia |
OMIM:233270 |
Retinitis Pigmentosa 2 |
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Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Oculocutaneous Albinism Type 4 |
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Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Retinal Cone Dystrophy 3B |
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Scotoma, Photophobia, Astigmatism, Myopia, Reduced visual acuity, Nyctalopia |
OMIM:610356 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
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Hypoplasia of the iris, Miosis, Chorioretinal coloboma |
ORPHA:1422 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Sveinsson Chorioretinal Atrophy |
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Astigmatism, Peripapillary chorioretinal atrophy |
OMIM:108985 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
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Iris coloboma, Microtia |
ORPHA:139450 |
Megalocornea-Intellectual Disability Syndrome |
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Megalocornea, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Exudative Vitreoretinopathy 7 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria, Retinal detachment |
OMIM:219250 |
Newfoundland Rod-Cone Dystrophy |
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Color vision defect, Scotoma, Nyctalopia, Visual impairment |
OMIM:607476 |
Peroxisome Biogenesis Disorder 2B |
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Polar cataract |
OMIM:202370 |
Vitreoretinochoroidopathy |
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Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Central Retinal Vein Occlusion |
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Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Keratoconus 1 |
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Astigmatism, Keratoconus |
OMIM:148300 |
Leber Congenital Amaurosis 9 |
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Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Leber Congenital Amaurosis 13 |
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Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Nystagmus 1, Congenital, X-Linked |
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Reduced visual acuity, Mildly reduced visual acuity |
OMIM:310700 |
Leber Congenital Amaurosis 7 |
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Cataract, Keratoconus |
OMIM:613829 |
Senior-Loken Syndrome |
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Retinal dystrophy, Cataract, Abnormality of retinal pigmentation |
ORPHA:3156 |
Wagro Syndrome |
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Cataract, Corneal opacity, Aniridia |
OMIM:612469 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
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Cleft upper lip, Anterior encephalocele, Facial cleft, Bilateral cleft lip, Bilateral cleft palate |
OMIM:601357 |
Encephalocraniocutaneous Lipomatosis |
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Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea |
OMIM:613001 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia |
OMIM:610125 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis |
OMIM:617388 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
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Downslanted palpebral fissures, Retinal fold, Optic atrophy, Epicanthus, Retinal detachment, Micr... |
OMIM:152950 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Megalocornea, Anophthalmia, Abnormal optic nerve morphology, Corneal dystrophy, Abnormal vitreous... |
ORPHA:1101 |
Albinism, Oculocutaneous, Type Iii |
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Albinism, Red hair, Partial albinism |
OMIM:203290 |
Cataract 19, Multiple Types |
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Cortical pulverulent cataract, Amblyopia |
OMIM:615277 |
Retinitis Pigmentosa 56 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Epithelial Recurrent Erosion Dystrophy |
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Corneal erosion |
OMIM:122400 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
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Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
Coloboma, Ocular, Autosomal Dominant |
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Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
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Heterochromia iridis |
OMIM:616460 |
Insulinomatosis And Diabetes Mellitus |
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Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Hyperparathyroidism 2 With Jaw Tumors |
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Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Spastic Paraparesis-Deafness Syndrome |
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Cataract |
ORPHA:2815 |
Myopia 23, Autosomal Recessive |
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Reduced visual acuity, Increased axial length of the globe, High myopia, Visual impairment |
OMIM:615431 |
Oculomaxillofacial Dysostosis |
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Aplasia/Hypoplasia affecting the eye, Facial cleft, Median cleft lip, Cleft palate, Abnormality o... |
ORPHA:1794 |
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
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Reduced visual acuity, Blindness |
OMIM:601553 |
Retinitis Pigmentosa 10 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Weill-Marchesani Syndrome 3 |
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Shallow anterior chamber, Microspherophakia, High myopia, Ectopia lentis |
OMIM:614819 |
Dyschromatosis Universalis Hereditaria |
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Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Oculocutaneous Albinism Type 3 |
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Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... |
ORPHA:79433 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Microphthalmia, Isolated, With Coloboma 9 |
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Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... |
OMIM:615145 |
Keratoendotheliitis Fugax Hereditaria |
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Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Biemond Syndrome Ii |
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Iris coloboma |
OMIM:210350 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Coloboma, Microphthalmia, Optic atrophy |
OMIM:274270 |
Blepharoptosis, Myopia, And Ectopia Lentis |
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Myopia, Increased axial length of the globe, Ectopia lentis |
OMIM:110150 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Alexander Disease |
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Microcoria |
OMIM:203450 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Coloboma, Hydrocephalus, Cataract, Microphthalmia, Corneal opacity, Retinal detachment, Death in ... |
OMIM:613153 |
Idiopathic Panuveitis |
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Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Usher Syndrome Type 3 |
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Hemianopia, Iris hypopigmentation, Scotoma, Visual loss, Astigmatism, Cataract, High hypermetropi... |
ORPHA:231183 |
Senior-Loken Syndrome 6 |
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Reduced visual acuity, Visual impairment |
OMIM:610189 |
Retinitis Pigmentosa 77 |
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Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Exudative Vitreoretinopathy 3 |
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Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Achromatopsia 3 |
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Monochromacy, Achromatopsia, Moderately reduced visual acuity, Dyschromatopsia, Cataract, Severel... |
OMIM:262300 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
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Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Retinitis Pigmentosa 78 |
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Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia |
OMIM:617433 |
Donnai-Barrow Syndrome |
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Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Cataract, Retinal detachment |
OMIM:222448 |
Megalocornea-Mental Retardation Syndrome |
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Hypoplasia of the iris, Megalocornea, Iridodonesis |
OMIM:249310 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
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Reduced visual acuity, Cerulean cataract, Central scotoma, Color vision defect, Blind-spot enlarg... |
OMIM:616732 |
Idiopathic Anterior Uveitis |
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Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract |
ORPHA:280914 |
Fuchs Endothelial Corneal Dystrophy |
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Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Visual loss, ... |
ORPHA:98974 |
Granular Corneal Dystrophy Type Ii |
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Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Retinitis Pigmentosa 83 |
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Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Retinitis Pigmentosa 25 |
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Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
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Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Microphthalmia, Syndromic 8 |
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Microphthalmia, Microcornea |
OMIM:601349 |
Retinal Dystrophy And Obesity |
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Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Late-Onset Retinal Degeneration |
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Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
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