Pupillary Membrane, Persistence Of |
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Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Anterior Segment Dysgenesis 8 |
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Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Iris Pigment Epithelium Anomalies |
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Iris cyst |
OMIM:601616 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 3 |
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Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Ectopia Lentis Et Pupillae |
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Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Exfoliation Syndrome |
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Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Corneal Dystrophy, Posterior Amorphous |
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Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Iridocorneal Endothelial Syndrome |
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Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Charcot-Marie-Tooth Disease Type 1B |
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Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Ectopia Pupillae |
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Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
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Ectopia pupillae |
OMIM:618031 |
Myopathy, Tubular Aggregate, 1 |
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Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
Facial Spasm |
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Anisocoria |
OMIM:134300 |
Microcoria, Congenital |
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Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Megalocornea |
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Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Posterior Polymorphous Corneal Dystrophy |
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Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Microphthalmia, Isolated, With Corectopia |
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Ectopia pupillae |
OMIM:156900 |
X-Linked Recessive Ocular Albinism |
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Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Woolly Hair |
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Abnormal pupil morphology, Cataract |
ORPHA:170 |
Woolly Hair Nevus |
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Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Ophthalmoplegia, Familial Static |
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Anisocoria |
OMIM:165000 |
Coats Disease |
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Leukocoria |
OMIM:300216 |
Isolated Ectopia Lentis |
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Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Alexander Disease |
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Microcoria |
OMIM:203450 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Uveal Melanoma |
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Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation |
ORPHA:39044 |
Norrie Disease |
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Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Short Syndrome |
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Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Phacoanaphylactic Uveitis |
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Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Triopia |
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Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Axenfeld-Rieger Syndrome, Type 3 |
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Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Axenfeld-Rieger Syndrome, Type 1 |
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Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract |
OMIM:619649 |
Persistent Hyperplastic Primary Vitreous |
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Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Proteus-Like Syndrome |
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Abnormal pupil morphology, Cataract, Heterochromia iridis, Limbal dermoid |
ORPHA:2969 |
Trisomy 9P |
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Abnormal pupil morphology |
ORPHA:236 |
Familial Dysautonomia |
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Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Hyponatremia |
ORPHA:1764 |
Oculopalatocerebral Syndrome |
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Leukocoria |
OMIM:257910 |
Anterior Segment Dysgenesis 6 |
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Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Elevated circulating creatine kinase concentration, Buphthalmos, Cataract, Peters anomaly, Persis... |
OMIM:613150 |
Duane Retraction Syndrome |
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Abnormal pupil morphology, Central heterochromia, Microcornea, Hypoplastic iris stroma, Iris colo... |
ORPHA:233 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Distal Monosomy 6P |
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Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Weill-Marchesani Syndrome 4 |
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Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Alagille Syndrome |
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Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria |
OMIM:219250 |
Pierson Syndrome |
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Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
Intestinal Botulism |
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Mydriasis |
ORPHA:178481 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Mydriasis |
OMIM:619365 |
Toxin-Mediated Infectious Botulism |
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Mydriasis |
ORPHA:230800 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Cataract, Persistent pupillary membrane, Microcornea |
OMIM:257850 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Lens subluxation, Ectopia pupillae, Corneal opacity, Hypotriglyceridemia |
ORPHA:85167 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Infant Botulism |
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Keratoconjunctivitis sicca, Mydriasis, Hyponatremia |
ORPHA:178478 |
Charcot-Marie-Tooth Disease Type 1E |
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Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Oculocerebrorenal Syndrome Of Lowe |
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Abnormal pupil morphology, Hyponatremia, Lentiglobus, Hypokalemia, Hypophosphatemia, Buphthalmos,... |
ORPHA:534 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Elevated c... |
OMIM:175780 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract |
ORPHA:2714 |
Trichinellosis |
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Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis |
ORPHA:863 |
Knobloch Syndrome 1 |
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Iris transillumination defect, Developmental cataract, Lens subluxation, Chorioretinal atrophy, B... |
OMIM:267750 |
Norrie Disease |
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Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... |
ORPHA:649 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
Scalp-Ear-Nipple Syndrome |
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Anisocoria, Iris coloboma, Developmental cataract, Cataract |
OMIM:181270 |
Retinoblastoma |
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Leukocoria, Heterochromia iridis, Hypopyon, Uveitis |
ORPHA:790 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
Osteopetrosis, Autosomal Recessive 5 |
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Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Pituitary Apoplexy |
|
Mydriasis, Hyponatremia |
ORPHA:95613 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Cocaine Intoxication |
|
Mydriasis, Elevated circulating creatine kinase concentration |
ORPHA:90068 |
Scorpion Envenomation |
|
Hypokalemia, Increased circulating creatine kinase MB isoform, Mydriasis, Increased circulating N... |
ORPHA:466677 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Rieger anomaly, Ectopia pupillae |
OMIM:194190 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Axenfeld anomaly, Microcornea, Astigmatism, Iris coloboma, Cataract, I... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae |
OMIM:235730 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Iris coloboma, Cataract |
OMIM:613406 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Hypokalemia, Keratoconus |
ORPHA:286 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Plague |
|
Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
Nizon-Isidor Syndrome |
|
Iris coloboma |
OMIM:618872 |