Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis, Telecanthus |
OMIM:608890 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis, Sclerocornea, Hypertelorism, Iris coloboma, Retinal detachment,... |
OMIM:615145 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Horner Syndrome, Congenital |
|
Heterochromia iridis, Congenital Horner syndrome, Deeply set eye |
OMIM:143000 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, Generalized hypopigmentation, Hypopigmentation of the fundus, White eyelashes, White... |
OMIM:103500 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Ptosis, Aplasia/Hypoplasia of the iris, Corneal opacity, Cataract,... |
ORPHA:1067 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Epicanthus, Long eyelashes, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Irregular hyperpigmentation, Deeply set eye, Ptosis |
ORPHA:1214 |
Facial Paresis, Hereditary Congenital, 1 |
|
Decreased corneal reflex |
OMIM:601471 |
Microphthalmia, Isolated 3 |
|
Sclerocornea, Ankyloblepharon |
OMIM:611038 |
Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
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 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Proptosis, Ectopia pupillae |
OMIM:602482 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... |
OMIM:604229 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... |
OMIM:126070 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Uveal Melanoma |
|
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Vitreous hemorrhage, Reti... |
ORPHA:39044 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline 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 |
Megalocornea |
|
Megalocornea |
OMIM:249300 |
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 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair |
OMIM:606574 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... |
ORPHA:98960 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... |
ORPHA:370097 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Congenital Primary Aphakia |
|
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... |
ORPHA:83461 |
Familial pterygium of the conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Iris coloboma, Retinal deta... |
ORPHA:1473 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:613265 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Isolated Ectopia Lentis |
|
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... |
OMIM:608470 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... |
OMIM:619165 |
Heterochromia Iridis |
|
Heterochromia iridis, Asymmetry of iris pigmentation |
OMIM:142500 |
Wound Botulism |
|
Mydriasis, Cardiac arrest, Ptosis |
ORPHA:178475 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Iatrogenic Botulism |
|
Mydriasis, Orthostatic hypotension, Ptosis |
ORPHA:254509 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Opacification of the... |
OMIM:614230 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Distal Monosomy 6P |
|
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Epicanthus, Downslanted palpebral f... |
ORPHA:96125 |
Urocanase Deficiency |
|
Blue irides, Fair hair, Tremor |
OMIM:276880 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Proptosis, Cataract, Retinopathy, Microcornea |
OMIM:616171 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
Woolly Hair |
|
Sparse lateral eyebrow, Abnormal pupil morphology, Cataract, Hypopigmentation of hair, Abnormal r... |
ORPHA:170 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... |
OMIM:612109 |
8Q21.11 Microdeletion Syndrome |
|
Ptosis, Sclerocornea, Hypertelorism, Epicanthus, Downslanted palpebral fissures, Corneal opacity,... |
ORPHA:284160 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Kleeblattschaedel |
|
Recurrent corneal erosions, Proptosis |
OMIM:148800 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Uveitis, Proptosis, Multiple cafe-au-lait spots, Blepharitis, Iri... |
ORPHA:158000 |
Oculocutaneous Albinism Type 1 |
|
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Iris transillumination defect... |
ORPHA:352731 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Microphthalmia With Brain And Digit Anomalies |
|
Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Brittle Cornea Syndrome 2 |
|
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus |
OMIM:614170 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Long eyebrows |
OMIM:275400 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... |
ORPHA:209959 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Ptosis, Telecanthus, Heterochromia iridis, White forelock, Hypopigmen... |
ORPHA:895 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... |
OMIM:221900 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... |
OMIM:277580 |
Gómez-López-Hernández Syndrome |
|
Hypertelorism, Corneal opacity, Telecanthus |
ORPHA:1532 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
Gorlin-Chaudhry-Moss Syndrome |
|
Upper eyelid coloboma, Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Astigmatism |
ORPHA:2095 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Foodborne Botulism |
|
Mydriasis, Arrhythmia, Ptosis |
ORPHA:228371 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Cataract, Unilateral narrow palpebral fissure, Astigmatism, Ectopia pupillae |
OMIM:618727 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... |
OMIM:310600 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... |
OMIM:193510 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... |
ORPHA:2885 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair, Tremor |
ORPHA:66633 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Sclerocornea, Abnormality of skin pigmentation, Corneal dystrophy, Ca... |
ORPHA:1806 |
Infant Botulism |
|
Mydriasis, Hypertension, Keratoconjunctivitis sicca, Ptosis, Cardiac arrest, Hypotension |
ORPHA:178478 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Ptosis, Hypertelorism, Brushfield spots, Telecanthus, Iris... |
ORPHA:1791 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... |
ORPHA:91495 |
Triopia |
|
Hypertelorism, Abnormal eyebrow morphology, Iris coloboma, Abnormal pupil morphology, Microcornea... |
ORPHA:3374 |
3Q29 Microduplication Syndrome |
|
Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma, Cataract |
ORPHA:251038 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Ptosis, Epicanthus, Downslanted palpebral fissures, Heteroch... |
ORPHA:1390 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmenta... |
ORPHA:54 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, ... |
OMIM:613001 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Cataract, Corneal neovasculariz... |
OMIM:278730 |
Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst |
OMIM:251505 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy |
OMIM:252650 |
2Q24 Microdeletion Syndrome |
|
Hypertelorism, Downslanted palpebral fissures, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
N Syndrome |
|
Megalocornea, Abnormal eyelid morphology |
ORPHA:2608 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Broad eyebrow, Decreased corneal sensation, Upslanted palpebral fissure, Hypertelorism, Keratitis... |
OMIM:122430 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Iris hypopigmentation, Retinopathy, Premature graying of hair |
ORPHA:79476 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... |
OMIM:203200 |
Stromme Syndrome |
|
Sclerocornea, Optic nerve hypoplasia, Hypertelorism, Peters anomaly, Iris coloboma, Cataract, Ret... |
OMIM:243605 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
Riboflavin Transporter Deficiency |
|
Hypertension, Optic disc pallor, Ptosis, Tremor, Abnormality of macular pigmentation, Iris hypopi... |
ORPHA:97229 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... |
ORPHA:137902 |
Short Syndrome |
|
Hypoplasia of the iris, Posterior embryotoxon, Hypertelorism, Telecanthus, Abnormal pupil morphol... |
ORPHA:3163 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Hypopigmented skin patches, Partial albinism, Telecanthus, Heterochromia iridis, Whi... |
OMIM:148820 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Proptosis |
ORPHA:2370 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Botulism |
|
Mydriasis, Arrhythmia |
ORPHA:1267 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypertelorism, Epicanthus, Ectopia pupillae, Pulmonic stenosis |
OMIM:618223 |
Mietens Syndrome |
|
Sclerocornea, Microcornea, Corneal opacity, Cataract |
ORPHA:2557 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Mental Retardation, Buenos Aires Type |
|
Blue irides, Ptosis, Curly eyelashes, Long eyelashes, Downslanted palpebral fissures, Hypertelori... |
OMIM:249630 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... |
OMIM:133780 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Macular atrophy, Lens subluxation, Retinal atrophy, Retinal ... |
ORPHA:85167 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... |
ORPHA:41751 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... |
OMIM:601706 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Proptosis, Hypertelorism, Epicanthus, Megalocornea |
OMIM:618354 |
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Opacification of the corneal stroma |
OMIM:204850 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Hypertelorism, Telecanthus, Proptosis, Abnormally prominent line of Schwalbe, Abs... |
OMIM:109120 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Ectropion, Hypertelorism, Downslanted palpebral fissures, Long palpebral fissure,... |
OMIM:602562 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmented skin patches, Freckling, Abnormal size of the palpebral fissures, Hyperpigmentation... |
ORPHA:3214 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Cataract, Opacification of the corneal stroma, Keratoconjunctivitis, Corneal neovasculari... |
OMIM:158310 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis, Hypertelorism, Epicanthus, Congenital stationary night blindness |
ORPHA:90646 |
Brachymesomelia-Renal Syndrome |
|
Opacification of the corneal stroma, Blepharophimosis, Short palpebral fissure |
OMIM:113470 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Opacification of the corneal stroma |
OMIM:245900 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal neovascularization, Vitreous hemorrhage, Retin... |
OMIM:193220 |
Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
Phace Syndrome |
|
Lens coloboma, Abnormality of the orbital region, Retinal vascular malformation, Ptosis, Scleroco... |
ORPHA:42775 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Hypertelorism, Abnormal eyebrow morphology, Retinal detachment, C... |
ORPHA:85194 |
Retinal Venous Beading |
|
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... |
OMIM:180080 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:177910 |
Phenylketonuria |
|
Blue irides, Generalized hypopigmentation, Cataract, Fair hair |
OMIM:261600 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Proptosis, Cataract |
ORPHA:85172 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Developmental cataract, Retinal arteriolar tortuosity, Polycoria, Hypoplasia... |
OMIM:175780 |
Hec Syndrome |
|
Developmental cataract, Cardiomyopathy, Abnormal pupil morphology, Abnormal retinal vascular morp... |
ORPHA:2119 |
Trisomy 9P |
|
Abnormal pupil morphology, Hypertelorism, Downslanted palpebral fissures, Deeply set eye |
ORPHA:236 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Acrofrontofacionasal Dysostosis |
|
Hypopigmented skin patches, Ptosis, Hypertelorism, Brushfield spots, Downslanted palpebral fissur... |
ORPHA:1784 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Upslanted palpebral fissure, Hypertelorism, Brushfield spots, Epicanthus, Palpebral edema, Catara... |
OMIM:214110 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Late-Onset Retinal Degeneration |
|
Macular atrophy, Multifocal subretinal deposits, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Ermine Phenotype |
|
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... |
ORPHA:999 |
Hermansky-Pudlak Syndrome 11 |
|
Menorrhagia, Gingival bleeding, Ocular albinism, Hypoplasia of the fovea, Iris transillumination ... |
OMIM:619172 |
Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion, Ectropion |
OMIM:205400 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula |
OMIM:256540 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Myopic astigmatism, Upslanted palpebral fissure, Chorioretinal dyspl... |
OMIM:152950 |
Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Gingival bleeding, Retinal vascular malformation, Epistaxis, Iris hypopigmen... |
ORPHA:53719 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Serotonin Syndrome |
|
Mydriasis, Hypertension, Tachycardia, Tremor, Hypotension |
ORPHA:43116 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypertelorism, Brushfield spots, Epicanthus, Palpebral edema, Cataract, Pigmentary retinopathy, O... |
OMIM:614866 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Developmental cataract, Corneal dystrophy |
ORPHA:2572 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Hamartoma of the orbital region, Hypertelorism, Telecanthus, Sparse eyebr... |
ORPHA:2399 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Partial albinism, Hypoplastic iris stroma, Hypertelorism, Telecanthus, Hypopigmentat... |
OMIM:193500 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Ankyloblepharon, Antecubital pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
Crouzon Disease |
|
Hypopigmented skin patches, Optic atrophy, Ptosis, Hypertelorism, Melanocytic nevus, Iris colobom... |
ORPHA:207 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma, Angina pectoris, Xanthelasma |
ORPHA:425 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Donnai-Barrow Syndrome |
|
Retinal dystrophy, Hypertelorism, Downslanted palpebral fissures, Iris coloboma, Retinal detachme... |
ORPHA:2143 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma, Absent foveal reflex, Microcornea |
OMIM:615147 |
Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma |
DECIPHER:42 |
Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Anterior uveitis, Optic neuritis, Vitreous snowballs, Vasculiti... |
ORPHA:279914 |
Cherubism |
|
Optic neuropathy, Marcus Gunn pupil, Proptosis, Lower eyelid retraction, Macular scar |
OMIM:118400 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Keratoconus Posticus Circumscriptus |
|
Hypertelorism, Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Al-Gazali Syndrome |
|
Sclerocornea, Corneal opacity |
OMIM:609465 |
Oculomaxillofacial Dysostosis |
|
Upslanted palpebral fissure, Abnormal eyelid morphology, Corneal opacity, Sparse or absent eyelas... |
ORPHA:1794 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Hypertelorism, Telecanthus, Opacification of the corneal stroma, Micr... |
OMIM:601499 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, Hypoplasia of the fovea,... |
ORPHA:55 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Chromosome 5P13 Duplication Syndrome |
|
Upslanted palpebral fissure, Hypotelorism, Epicanthus, Hypertelorism, Short palpebral fissure, Pr... |
OMIM:613174 |
Retinoblastoma |
|
Retinal calcification, Abnormality of retinal pigmentation, Hypopyon, Subretinal pigment epitheli... |
ORPHA:790 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma, Retinal detach... |
OMIM:212550 |
Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma |
OMIM:169550 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Ret... |
OMIM:193235 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Corneal Dystrophy, Lattice Type Iiia |
|
Lattice corneal dystrophy, Corneal erosion |
OMIM:608471 |
Congenital Microcoria |
|
Nuclear cataract, Developmental cataract, Corneal stromal edema, Iris transillumination defect, H... |
ORPHA:566 |
Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Retinal capillary hemangioma, Vitre... |
ORPHA:71213 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Sparse eyelashes, Downslanted palpebral fissures, Distichiasis, Cataract, Opacification of the co... |
OMIM:211370 |
Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
Noonan Syndrome 9 |
|
Ptosis, Prolonged prothrombin time, Hypertelorism, Sparse eyebrow, Downslanted palpebral fissures... |
OMIM:616559 |
Neovascular Glaucoma |
|
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... |
ORPHA:94058 |
Pituitary Apoplexy |
|
Mydriasis, Hypertension, Hypotension, Ptosis |
ORPHA:95613 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Chorioretinal coloboma, Proptosis, Iris coloboma |
OMIM:617662 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... |
OMIM:618815 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Retinal thinning, Ma... |
OMIM:270200 |
Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Sclerocornea, Iris coloboma, Cataract, Pigmentary retinopathy, Arrhy... |
OMIM:309801 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:411515 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Telecanthus, Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Proteus-Like Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Heterochromia iridis, Abnormal pupil morphology, ... |
ORPHA:2969 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse and thin eyebrow, Corneal opacity, Blepharitis |
OMIM:602400 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Corneal opacity, Telecanthus, Developmental glaucoma |
ORPHA:1064 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... |
ORPHA:998 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Noonan Syndrome 4 |
|
Blue irides, Hypertrophic cardiomyopathy, Ptosis, Bilateral ptosis, Hypertelorism, Epicanthus, Do... |
OMIM:610733 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Blepharophimosis, Abnormal eyebrow morphology |
OMIM:600920 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Blue irides, Upslanted palpebral fissure, Hand tremor, Epicanthus, Deeply set eye, Cafe-au-lait spot |
ORPHA:3041 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Upslanted palpebral fissure, Optic nerve hypoplasia, ... |
ORPHA:496790 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma, Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Highly arched eyebrow, Long eyelashes, Long palpebral fissure, Proptosis |
ORPHA:411493 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Ptosis, White hair, Telecanthus, White eyelashes, Heterochromia iridi... |
ORPHA:894 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Hypopigmented skin patches, Hypoplasia of the iris, Ocular albinism, Hypopigmentatio... |
OMIM:611584 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Conjunctivitis |
ORPHA:411777 |
Wolf-Hirschhorn Syndrome |
|
Highly arched eyebrow, Optic atrophy, Ptosis, Sclerocornea, Hypertelorism, Epicanthus, Downslante... |
ORPHA:280 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Hypertelorism, Corneal opacity, Proptosis |
OMIM:618961 |
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Microcornea, Epicanthus |
ORPHA:2536 |
Arachnoid Cyst |
|
Mydriasis, Subarachnoid hemorrhage, Ptosis |
ORPHA:2356 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia, Hypertension, Retinal detachment, Leukocoria |
OMIM:219250 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Ptosis, Ectopia lentis, Iris coloboma, Palpebral edema |
ORPHA:1259 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Alagille Syndrome |
|
Hypertension, Hypertelorism, Telangiectasia of the skin, Downslanted palpebral fissures, Corneal ... |
ORPHA:52 |
Stickler Syndrome Type 1 |
|
Abnormal vitreous humor morphology, Retinal detachment, Proptosis, Cataract |
ORPHA:90653 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, L... |
OMIM:613266 |
Cocaine Intoxication |
|
Mydriasis, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tach... |
ORPHA:90068 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Hypertension, Retinal infarction, Pulmonary arterial hypertension |
OMIM:613834 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
Trisomy 12P |
|
Hypertelorism, Epicanthus, Aplasia/Hypoplasia of the iris, Thick eyebrow, Proptosis |
ORPHA:1699 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Posterior embryotoxon, Axenfeld anomaly, Hypertelorism, Telecanthus, Peters anoma... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Hypertrophic cardiomyopathy, Eyelid coloboma, Hyperpigmentation of the skin, Asti... |
OMIM:600268 |
Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Dilated cardiomyopathy, Abnormality of retinal pigmentation, Hypertro... |
ORPHA:2556 |
Retinopathy Of Prematurity |
|
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Zellweger Syndrome |
|
Optic atrophy, Posterior embryotoxon, Upslanted palpebral fissure, Brushfield spots, Epicanthus, ... |
ORPHA:912 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
Warburg-Cinotti Syndrome |
|
Decreased corneal thickness, Narrow palpebral fissure, Symblepharon, Retinal dystrophy, Epicanthu... |
OMIM:618175 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Retinal dystrophy, Cataract |
OMIM:263100 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma, Hypertelorism, Downslanted palpebral fissures |
OMIM:601853 |
Oculocutaneous Albinism Type 1A |
|
Abnormality of the optic nerve, Hypoplasia of the fovea, Ocular albinism, Freckling, Hypopigmenta... |
ORPHA:79431 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Proptosis, Cataract |
OMIM:617481 |
Piebald Trait |
|
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Noonan Syndrome 13 |
|
Blue irides, Highly arched eyebrow, Broad eyebrow, Almond-shaped palpebral fissure, Mitral regurg... |
OMIM:619087 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis, Abnormal T-wave, Thin eyebrow, Cardiac conduction abnormality, Cardiomyopathy, Tremor,... |
ORPHA:2131 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Hermansky-Pudlak Syndrome |
|
Abnormality of the optic nerve, Partial albinism, Ocular albinism, Epistaxis, Long eyelashes, Car... |
ORPHA:79430 |
Duane Retraction Syndrome |
|
Hypopigmented skin patches, Patchy hypopigmentation of hair, Chorioretinal coloboma, Ptosis, Anir... |
ORPHA:233 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albi... |
OMIM:203100 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
Cat-Eye Syndrome |
|
Hypertelorism, Chorioretinal coloboma, Downslanted palpebral fissures, Iris coloboma |
ORPHA:195 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Upslanted palpebral fissure, Corneal dystrophy, Rod-cone dystrophy, Short palpebral fissure, Deep... |
OMIM:617763 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Highly arched eyebrow, Ptosis, Hypertelorism, Telecanthus, Epicanthus, Downslanted palpebral fiss... |
ORPHA:2995 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Anisocoria |
|
Anisocoria |
OMIM:106240 |
Sturge-Weber Syndrome |
|
Optic atrophy, Conjunctival telangiectasia, Corneal dystrophy, Iris coloboma, Heterochromia iridi... |
ORPHA:3205 |
Juvenile Nephropathic Cystinosis |
|
Hypovolemia, Abnormal cornea morphology, Corneal crystals |
ORPHA:411634 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Retinal dystrophy, Hypertelorism, Downslanted palpebral fissures, Iris co... |
OMIM:222448 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
Albinism, Ocular, Type I |
|
Depigmented fundus, Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Norrie Disease |
|