| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ... |
OMIM:615145 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... |
OMIM:619947 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis |
ORPHA:1214 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... |
OMIM:309300 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
| Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
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 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
| Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Wound Botulism |
|
Ptosis, Cardiac arrest, Mydriasis |
ORPHA:178475 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Iatrogenic Botulism |
|
Ptosis, Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Dermochondrocorneal Dystrophy |
|
Corneal dystrophy |
ORPHA:79149 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypertelorism, Blepha... |
ORPHA:284160 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
| Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions |
OMIM:148800 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration |
OMIM:275400 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots,... |
ORPHA:158000 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism |
ORPHA:1532 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism |
ORPHA:2095 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Foodborne Botulism |
|
Ptosis, Arrhythmia, Mydriasis |
ORPHA:228371 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Subcutaneous hemorrhage |
ORPHA:1980 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure |
OMIM:618727 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... |
ORPHA:1390 |
| Infant Botulism |
|
Mydriasis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Ptosis |
ORPHA:178478 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo... |
ORPHA:3374 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... |
ORPHA:1806 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Entropion, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conj... |
OMIM:278730 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Hypertelorism, Pigmentary retinopathy, Downslanted palpebral ... |
OMIM:614230 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst |
OMIM:251505 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy |
OMIM:616171 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism |
ORPHA:1617 |
| Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
| Miller Fisher Syndrome |
|
Anisocoria, Ptosis, Mydriasis |
ORPHA:98919 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid |
OMIM:613001 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Tremor, Hypertension, Abnormality of macular pigmentati... |
ORPHA:97229 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar... |
OMIM:300952 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| N Syndrome |
|
Megalocornea, Abnormal eyelid morphology |
ORPHA:2608 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Microcornea, Deeply set eye, Peter... |
OMIM:243605 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Corneal Dystrophy, Lattice Type I |
|
Lattice corneal dystrophy, Recurrent corneal erosions |
OMIM:122200 |
| Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Corneal opacity |
ORPHA:2370 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
| Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... |
ORPHA:40923 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy... |
ORPHA:3163 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism |
ORPHA:90646 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Dow... |
OMIM:602562 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
| Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Hypertelorism, Proptosis, Absent extraocular muscles, Abnormally pro... |
OMIM:109120 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Deeply set e... |
OMIM:617183 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis |
OMIM:300915 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Hypert... |
ORPHA:85194 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal... |
OMIM:175780 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,... |
ORPHA:79432 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation |
OMIM:617306 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Trisomy 9P |
|
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism |
ORPHA:236 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
| Acrofrontofacionasal Dysostosis |
|
Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr... |
ORPHA:1784 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris... |
OMIM:619172 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Up... |
OMIM:214110 |
| Wyburn-Mason Syndrome |
|
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Proptosis, Retinal vascular malformation... |
ORPHA:53719 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
| Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Hypertelorism, Proptosis, Downslanted palpebral fissures, ... |
ORPHA:2143 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Proptosis |
ORPHA:85172 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Hypertelorism, Synophrys, Blue iri... |
OMIM:193500 |
| Serotonin Syndrome |
|
Tachycardia, Tremor, Hypertension, Hypotension, Mydriasis |
ORPHA:43116 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
| Tonne-Kalscheuer Syndrome |
|
Hypertelorism, Tremor, Blue irides, Hypotelorism, Downslanted palpebral fissures |
OMIM:300978 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip... |
OMIM:614077 |
| Crouzon Syndrome |
|
Hypertelorism, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Proptosis, Conjuncti... |
ORPHA:207 |
| Tangier Disease |
|
Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion |
OMIM:205400 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Ectopia pupillae, Pulmonic stenosis, Hypertelorism |
OMIM:618223 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Hypertelorism, Microcornea, Opacification of the corneal stroma, Anterior chamber sy... |
OMIM:601499 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
| Cat-Eye Syndrome (Type I) |
|
Downslanted palpebral fissures, Iris coloboma |
DECIPHER:42 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Hypertelorism |
OMIM:244600 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, M... |
OMIM:619727 |
| Cherubism |
|
Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil |
OMIM:118400 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
| Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Prolonged prothrombin time, Pulmon... |
OMIM:616559 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis |
ORPHA:1259 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Iris tran... |
OMIM:614074 |
| Congenital Microcoria |
|
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... |
ORPHA:566 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Corneal Dystrophy, Lattice Type Iiia |
|
Corneal erosion, Lattice corneal dystrophy |
OMIM:608471 |
| Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... |
ORPHA:94058 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,... |
OMIM:612582 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hypertelorism, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of... |
OMIM:614195 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, De... |
ORPHA:496790 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Pituitary Apoplexy |
|
Ptosis, Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
| Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... |
ORPHA:2969 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulm... |
OMIM:610733 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H... |
OMIM:309801 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Synophrys, White hair, Hyp... |
ORPHA:894 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proptosis, Corneal opacity |
OMIM:166300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Epicanthus, Blue irides, Hand tremor, Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot |
ORPHA:3041 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Proptosis, Long eyelashes, Long palpebral fissure |
ORPHA:411493 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
| Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism |
OMIM:601853 |
| Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Thin eyebrow, Dystonia, ... |
ORPHA:2131 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Proptosis, Abnormal vitreous humor morphology |
ORPHA:90653 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... |
ORPHA:2399 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Corneal opacity, Hypertelorism |
OMIM:618961 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Trisomy 12P |
|
Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow |
ORPHA:1699 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Hypertelorism, Optic atrophy, Proptosis, Retinop... |
ORPHA:280 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure |
OMIM:619869 |
| Arachnoid Cyst |
|
Ptosis, Subarachnoid hemorrhage, Mydriasis |
ORPHA:2356 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Astigmati... |
OMIM:613174 |
| Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Hypertelorism, Abnormal pupil morphol... |
ORPHA:52 |
| Corneal Dystrophy, Gelatinous Drop-Like |
|
Corneal dystrophy |
OMIM:204870 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
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Cataract, Optic atrophy, Proptosis |
OMIM:617481 |
| Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Noonan Syndrome 13 |
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Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Blue irides, M... |
OMIM:619087 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Opacification of the corneal stroma |
OMIM:601356 |
| Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
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Microcornea, Posterior subcapsular cataract, Telecanthus, Chorioretinal degeneration |
OMIM:615458 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Athetosis, Iris hypopigmentation |
ORPHA:834 |
| Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Zellweger Syndrome |
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Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Optic... |
ORPHA:912 |
| Oculoectodermal Syndrome |
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Epicanthus, Transient ischemic attack, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea... |
OMIM:600268 |
| Retinopathy Of Prematurity |
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Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Warburg-Cinotti Syndrome |
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Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc... |
OMIM:618175 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
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Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Sturge-Weber Syndrome |
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Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
| Kid Syndrome |
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Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... |
ORPHA:477 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Hyper... |
ORPHA:2995 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin... |
ORPHA:79430 |
| Oculocutaneous Albinism Type 1A |
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Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
| Cat-Eye Syndrome |
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Downslanted palpebral fissures, Iris coloboma, Chorioretinal coloboma, Hypertelorism |
ORPHA:195 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
| Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi... |
OMIM:614076 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Cocaine Intoxication |
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Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Piebald Trait |
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Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Abnormal nasolacri... |
ORPHA:2556 |
| Griscelli Syndrome Type 2 |
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Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen... |
ORPHA:79477 |
| Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome |
|
Microcornea, Epicanthus |
ORPHA:2536 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cataract, Corneal opacity, Iris hypopigmentation, Ocular albinism, Athe... |
ORPHA:2719 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Proptosis, Optic atrophy, Mydriasis |
OMIM:259720 |
| Albinism, Oculocutaneous, Type Ia |
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Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
| Duane Retraction Syndrome |
|
