Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Waardenburg Syndrome, Type 2D |
|
Telecanthus, Heterochromia iridis |
OMIM:608890 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment... |
OMIM:615145 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, White eyebrow, White eyelashes, Hypopigmentation of th... |
OMIM:103500 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Telecanthus, Heterochromia irid... |
OMIM:619947 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Ptosis, Heterochromia iridis |
ORPHA:1214 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
Aniridia 1 |
|
Ptosis, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of th... |
OMIM:106210 |
Microphthalmia, Isolated 3 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Megalocornea |
|
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism... |
OMIM:309300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... |
OMIM:217800 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... |
OMIM:604229 |
Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... |
OMIM:126070 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Atopic Keratoconjunctivitis |
|
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... |
ORPHA:163934 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis, Hypertension |
ORPHA:1885 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Proptosis, Hypoplasia of the iris, Posterior synechiae o... |
OMIM:602482 |
Congenital Primary Aphakia |
|
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... |
OMIM:619165 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... |
OMIM:608470 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Wound Botulism |
|
Cardiac arrest, Ptosis, Mydriasis |
ORPHA:178475 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea |
OMIM:615877 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:79478 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Ptosis, Mydriasis |
ORPHA:254509 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Urocanase Deficiency |
|
Tremor, Fair hair, Blue irides |
OMIM:276880 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Proptosis, Cataract, Macular atrophy |
OMIM:616171 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... |
ORPHA:96125 |
Woolly Hair |
|
Abnormal pupil morphology, Hypopigmentation of hair, Abnormal retinal morphology, Cataract, Spars... |
ORPHA:170 |
Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, ... |
OMIM:612109 |
8Q21.11 Microdeletion Syndrome |
|
Corneal opacity, Downslanted palpebral fissures, Iris hypopigmentation, Epicanthus, Cataract, Hyp... |
ORPHA:284160 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions |
OMIM:148800 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... |
ORPHA:352731 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma |
ORPHA:139471 |
Juvenile Xanthogranuloma |
|
Blepharitis, Iritis, Asymmetry of iris pigmentation, Proptosis, Uveitis, Multiple cafe-au-lait sp... |
ORPHA:158000 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy, Long eyelashes, Long eyebrows, Central heterochromia |
OMIM:275400 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... |
ORPHA:209959 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Telecanthus, Heterochromia iridis, White forelock, Premature graying of... |
ORPHA:895 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Gorlin-Chaudhry-Moss Syndrome |
|
Upper eyelid coloboma, Astigmatism, Hypertelorism, Sclerocornea, Abnormal eyelid morphology |
ORPHA:2095 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism |
ORPHA:1532 |
Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Foodborne Botulism |
|
Arrhythmia, Ptosis, Mydriasis |
ORPHA:228371 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 4 |
|
Iris hypopigmentation, Hypoplastic iris stroma |
OMIM:137600 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Unilateral narrow palpebral fissure, Ectopia pupillae, Astigmatism, Optic atrophy, Cataract |
OMIM:618727 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
Waardenburg Syndrome, Type 2A |
|
Hypoplastic iris stroma, Numerous pigmented freckles, Partial albinism, White eyebrow, White eyel... |
OMIM:193510 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Frontofacionasal Dysplasia |
|
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... |
ORPHA:1791 |
Infant Botulism |
|
Hypotension, Mydriasis, Hypertension, Keratoconjunctivitis sicca, Cardiac arrest, Ptosis |
ORPHA:178478 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microcornea, Cataract, Abnormality of skin pigmentation, Corneal dystrophy, Keratoconjunctivitis ... |
ORPHA:1806 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Downslanted palpebral ... |
ORPHA:1390 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratitis, Telangiectasia, Ectropion, Corneal neovascularization, Choreoathetosis, Cataract, Entr... |
OMIM:278730 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... |
ORPHA:54 |
Triopia |
|
Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Iris coloboma, Hypertelorism... |
ORPHA:3374 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
3Q29 Microduplication Syndrome |
|
Downslanted palpebral fissures, Iris coloboma, Cataract, Aniridia, Sclerocornea |
ORPHA:251038 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... |
ORPHA:79433 |
Mucolipidosis Iv |
|
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia |
OMIM:252650 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Linear hyperpigment... |
OMIM:613001 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short palpebral fissure, Pigmentary retinopathy, Downslanted palpebral fissures, Epicanthus, Cata... |
OMIM:614230 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... |
ORPHA:67043 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Cardiomyopathy |
ORPHA:67048 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea |
OMIM:251505 |
2Q24 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Hypertelorism, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... |
OMIM:203200 |
Griscelli Syndrome Type 1 |
|
Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair |
ORPHA:79476 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... |
ORPHA:137902 |
N Syndrome |
|
Megalocornea, Abnormal eyelid morphology |
ORPHA:2608 |
Stromme Syndrome |
|
Deeply set eye, Optic nerve hypoplasia, Microcornea, Peters anomaly, Iris coloboma, Retinal vascu... |
OMIM:243605 |
Eales Disease |
|
Vitreous hemorrhage, Transient ischemic attack, Cystoid macular edema, Rhegmatogenous retinal det... |
ORPHA:40923 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Riboflavin Transporter Deficiency |
|
Abnormality of macular pigmentation, Iris hypopigmentation, Optic disc pallor, Tremor, Hypertensi... |
ORPHA:97229 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Telecanthus, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Prem... |
OMIM:148820 |
Short Syndrome |
|
Corneal opacity, Deeply set eye, Abnormal pupil morphology, Abnormal anterior chamber morphology,... |
ORPHA:3163 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Exudative Vitreoretinopathy 4 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Proptosis |
ORPHA:2370 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Mental Retardation, Buenos Aires Type |
|
Fair hair, Blue irides, Curly eyelashes, Downslanted palpebral fissures, Long eyelashes, Hypertel... |
OMIM:249630 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Pulmonic stenosis, Ectopia pupillae, Hypertelorism, Epicanthus |
OMIM:618223 |
Mietens Syndrome |
|
Corneal opacity, Cataract, Microcornea, Sclerocornea |
ORPHA:2557 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Retinal... |
ORPHA:85167 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Microcoria, Congenital |
|
Miosis, Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Epicanthus, Proptosis, Megalocornea, Hypertelorism |
OMIM:618354 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Whit... |
OMIM:601706 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... |
OMIM:602562 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... |
OMIM:158310 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Microcornea, Iris hypopigmentation, Iris coloboma, Freckling, Anterior ... |
ORPHA:3214 |
Deafness-Hypogonadism Syndrome |
|
Epicanthus, Hypertelorism, Congenital stationary night blindness, Heterochromia iridis |
ORPHA:90646 |
Exudative Vitreoretinopathy 1 |
|
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Abnormally prominent line of Schwalbe, Telecanthus, Proptosis, Rieger... |
OMIM:109120 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Corneal neovascularization, Keratoconjunctivitis sicca, Uveitis, Punctate keratitis |
OMIM:617388 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigment... |
ORPHA:85194 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Hypopigmentation of the sk... |
ORPHA:79432 |
Brachymesomelia-Renal Syndrome |
|
Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure |
OMIM:113470 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Mi... |
OMIM:175780 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Phace Syndrome |
|
Optic nerve hypoplasia, Sclerocornea, Iris coloboma, Cataract, Abnormality of the orbital region,... |
ORPHA:42775 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Acute Zonal Occult Outer Retinopathy |
|
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:284454 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
Phenylketonuria |
|
Cataract, Blue irides, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
Harel-Yoon Syndrome |
|
Corneal opacity, Deeply set eye, Upslanted palpebral fissure, Optic atrophy, Developmental catara... |
OMIM:617183 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Arrhythmia, Developmental catara... |
ORPHA:2119 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... |
OMIM:180080 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:177910 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Astigmatism, Iris hypopig... |
ORPHA:999 |
Tangier Disease |
|
Myocardial infarction, Ectropion, Cicatricial ectropion, Opacification of the corneal stroma |
OMIM:205400 |
Trisomy 9P |
|
Downslanted palpebral fissures, Hypertelorism, Deeply set eye, Abnormal pupil morphology |
ORPHA:236 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula |
OMIM:256540 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis, Cataract |
ORPHA:85172 |
Late-Onset Retinal Degeneration |
|
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... |
ORPHA:67042 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Retinal detachment, Microcornea... |
OMIM:152950 |
Hermansky-Pudlak Syndrome 11 |
|
Ocular albinism, Fair hair, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Gingiv... |
OMIM:619172 |
Acrofrontofacionasal Dysostosis |
|
Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Brushfield spots, Eyelid colob... |
ORPHA:1784 |
Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Iris hypopigmentation, Gingival bleeding, Proptosis... |
ORPHA:53719 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Developmental cataract, Corneal dystrophy |
ORPHA:2572 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Upslanted palpebral fissure, Palpebral edema, Opacification of the corneal stroma, Pigmentary ret... |
OMIM:214110 |
Serotonin Syndrome |
|
Tachycardia, Hypotension, Mydriasis, Tremor, Hypertension |
ORPHA:43116 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma, Xanthelasma |
ORPHA:425 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Premature graying of hair, Thick eyebrow, Blue irides, Telecanthus, Part... |
OMIM:193500 |
Crouzon Syndrome |
|
Optic atrophy, Iris coloboma, Proptosis, Melanocytic nevus, Hypertelorism, Conjunctivitis, Hypopi... |
ORPHA:207 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Downslanted palpebral fissures, Iris coloboma, Proptosis, ... |
ORPHA:2143 |
Intermediate Uveitis |
|
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Anterior uvei... |
ORPHA:279914 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma |
OMIM:615147 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Mydriasis, Optic atrophy, Epicanthus, Proptosis, Optic nerve compression, Hyper... |
OMIM:619727 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Palpebral edema, Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplas... |
OMIM:614866 |
Keratoconus Posticus Circumscriptus |
|
Hypertelorism, Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma |
DECIPHER:42 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Cherubism |
|
Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
Joint Laxity, Short Stature, And Myopia |
|
Iris coloboma, Retinal detachment, Proptosis, Chorioretinal coloboma |
OMIM:617662 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Hypert... |
OMIM:601499 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sparse or absent... |
ORPHA:1794 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Axillary pterygium, Antecubital pterygium |
OMIM:619339 |
Oculocutaneous Albinism |
|
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... |
ORPHA:55 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ectopia lentis, Ptosis |
ORPHA:1259 |
Chromosome 5P13 Duplication Syndrome |
|
Hypotelorism, Short palpebral fissure, Upslanted palpebral fissure, Astigmatism, Epicanthus, Prop... |
OMIM:613174 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma |
OMIM:169550 |
Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Bruising susceptibility, Menorrhagia, Hypoplasia of the fovea, Albinism, Iris tr... |
OMIM:614074 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Miosis, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Choriore... |
OMIM:212550 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Pulmonic stenosis, Downslanted palpebral fissures, Prominent corneal nerve fibers... |
OMIM:616559 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Retinoblastoma |
|
Hypopyon, Heterochromia iridis, Retinoblastoma, Vitreous hemorrhage, Abnormality of retinal pigme... |
ORPHA:790 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Congenital Microcoria |
|
Hypoplastic iris stroma, Abnormal pupillary light reflex, Nuclear cataract, Corneal stromal edema... |
ORPHA:566 |
Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia, Leukocoria |
OMIM:300216 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis |
OMIM:613834 |
Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... |
ORPHA:94058 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... |
OMIM:618815 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Central fundal arteriolar microaneurysms, Epiretinal membrane, Vitreous floa... |
ORPHA:71213 |
Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals |
ORPHA:411629 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... |
OMIM:211370 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Waardenburg Syndrome, Type 2E |
|
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, Hypoplasia of the iris, White... |
OMIM:611584 |
Pituitary Apoplexy |
|
Hypertension, Ptosis, Hypotension, Mydriasis |
ORPHA:95613 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea |
OMIM:615458 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Piebaldism |
|
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... |
ORPHA:2884 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Irregular hyperpigmentation, Retinal detachment, Limbal dermoid, Downs... |
ORPHA:2969 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Corneal opacity, Aniridia, Developmental glaucoma |
ORPHA:1064 |
Scheie Syndrome |
|
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Aortic regurgitation |
OMIM:607016 |
Mucolipidosis Iii Gamma |
|
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma |
OMIM:252605 |
Noonan Syndrome 4 |
|
Blue irides, Sparse eyebrow, Bruising susceptibility, Pulmonic stenosis, Abnormal bleeding, Downs... |
OMIM:610733 |
Edinburgh Malformation Syndrome |
|
Synophrys, Brushfield spots |
ORPHA:1895 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hypertelorism, Short palpebral fissure, Axenfeld anomaly, Opacification of the corneal stroma, Po... |
OMIM:612582 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Deeply set eye, Upslanted palpebral fissure, Optic nerve hypoplasia, Optic atrop... |
ORPHA:496790 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Deeply set eye, Blue irides, Hand tremor, Upslanted palpebral fissure, Epicanthus, Cafe-au-lait spot |
ORPHA:3041 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Proptosis |
OMIM:166300 |
Pontocerebellar Hypoplasia Type 10 |
|
Long palpebral fissure, Optic atrophy, Proptosis, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Waardenburg Syndrome Type 1 |
|
Thick eyebrow, Hypopigmentation of hair, Telecanthus, White eyebrow, White eyelashes, Synophrys, ... |
ORPHA:894 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Arrhythmia, Pigmentary retinopathy, Peters anomaly, Iris coloboma... |
OMIM:309801 |
Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia, Retinal detachment, Leukocoria |
OMIM:219250 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Epicanthus, Microcornea |
ORPHA:2536 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Thin eyebrow, Arrhythmia, Mydriasis, Tremor, Choreoathetosis, Cardiomyopathy, Ca... |
ORPHA:2131 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Sparse eyebrow, Lipomas of eyelids, Hamartoma of the orbital region, Telecanthus... |
ORPHA:2399 |
Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Optic disc pallor, Narrow palpebral fissure, Cataract, Sclerocornea |
OMIM:619869 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Proptosis, Hypertelorism |
OMIM:618961 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Ectropion, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Wolf-Hirschhorn Syndrome |
|
Retinopathy, Megalocornea, Downslanted palpebral fissures, Epicanthus, Iris coloboma, Optic atrop... |
ORPHA:280 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Ptosis, Mydriasis |
ORPHA:2356 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Trisomy 12P |
|
Thick eyebrow, Epicanthus, Proptosis, Hypertelorism, Aplasia/Hypoplasia of the iris |
ORPHA:1699 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma |
OMIM:603776 |
Stickler Syndrome Type 1 |
|
Proptosis, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90653 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma, Lacrimal duct atresia |
ORPHA:139450 |
Alagille Syndrome |
|
Telangiectasia of the skin, Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fiss... |
ORPHA:52 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Hypercholesterolemia, Familial, 1 |
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Corneal arcus, Xanthelasma |
OMIM:143890 |
Waardenburg Syndrome, Type 4C |
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Blue irides, Lacrimal gland hypoplasia, White eyebrow, White eyelashes, Heterochromia iridis, Whi... |
OMIM:613266 |
Warburg-Cinotti Syndrome |
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Symblepharon, Corneal neovascularization, Retinal dystrophy, Epicanthus, Narrow palpebral fissure... |
OMIM:618175 |
Oculoectodermal Syndrome |
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Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Epicanthus, Propto... |
OMIM:600268 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Optic atrophy, Proptosis, Cataract |
OMIM:617481 |
Retinopathy Of Prematurity |
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Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
Gomez-Lopez-Hernandez Syndrome |
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Downslanted palpebral fissures, Hypertelorism, Opacification of the corneal stroma |
OMIM:601853 |
Cocaine Intoxication |
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Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Corneal Dystrophy, Gelatinous Drop-Like |
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Corneal dystrophy |
OMIM:204870 |
Oculocutaneous Albinism Type 1A |
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Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... |
ORPHA:79431 |
Microphthalmia With Linear Skin Defects Syndrome |
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Corneal opacity, Vitritis, Abnormality of retinal pigmentation, Tricuspid regurgitation, Abnormal... |
ORPHA:2556 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Zellweger Syndrome |
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Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, Abnormal chorioretinal morph... |
ORPHA:912 |
Hermansky-Pudlak Syndrome |
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Ocular albinism, Bruising susceptibility, Abnormal bleeding, Hypopigmentation of the skin, Hypopi... |
ORPHA:79430 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
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Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes |
OMIM:602400 |
Noonan Syndrome 13 |
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Blue irides, Bruising susceptibility, Mitral regurgitation, Broad eyebrow, Multiple lentigines, D... |
OMIM:619087 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Opacification of the corneal stroma |
OMIM:601356 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy |
OMIM:263100 |
Free Sialic Acid Storage Disease |
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Iris hypopigmentation, Abnormality of skin pigmentation, Athetosis |
ORPHA:834 |
Piebald Trait |
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Heterochromia iridis, Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Whi... |
OMIM:172800 |
Albinism, Oculocutaneous, Type Ia |
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Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Astigmatism, Alb... |
OMIM:203100 |
Cat-Eye Syndrome |
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Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Chorioretinal coloboma |
ORPHA:195 |
Sturge-Weber Syndrome |
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Abnormal retinal vascular morphology, Retinal detachment, Conjunctival telangiectasia, Pulmonary ... |
ORPHA:3205 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Corneal opacity, Choroideremia, Ocular albinism, Ectropion, Hypopigmentation of hair, Athetosis, ... |
ORPHA:2719 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
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Hypertelorism, Long palpebral fissure, Palpebral edema, Microcornea, Euryblepharon, Optic disc co... |
ORPHA:2995 |
Duane Retraction Syndrome |
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