Pupillary Membrane, Persistence Of |
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Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Anterior Segment Dysgenesis 8 |
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Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
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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Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Anterior Segment Dysgenesis 3 |
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Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Microphthalmia, Isolated, With Coloboma 10 |
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Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
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Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Exfoliation Syndrome |
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Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Iridocorneal Endothelial Syndrome |
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Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Charcot-Marie-Tooth Disease Type 1B |
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Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
ORPHA:101082 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Ectopia Pupillae |
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Ectopia pupillae |
OMIM:129750 |
Myopathy, Tubular Aggregate, 1 |
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Elevated circulating creatine kinase concentration, Abnormal pupil morphology |
OMIM:160565 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
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Ectopia pupillae |
OMIM:618031 |
Facial Spasm |
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Anisocoria |
OMIM:134300 |
Microcoria, Congenital |
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Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Megalocornea |
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Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Microphthalmia, Isolated, With Corectopia |
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Ectopia pupillae |
OMIM:156900 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
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Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Posterior Polymorphous Corneal Dystrophy |
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Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
X-Linked Recessive Ocular Albinism |
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Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism |
ORPHA:54 |
Woolly Hair |
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Abnormal pupil morphology, Cataract |
ORPHA:170 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Uveitis, Cata... |
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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Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Alexander Disease |
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Microcoria |
OMIM:203450 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
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Abnormal pupil morphology |
ORPHA:2151 |
Norrie Disease |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Uveal Melanoma |
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Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Short Syndrome |
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Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria |
OMIM:300858 |
Phacoanaphylactic Uveitis |
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Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
Aniridia 1 |
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Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Chorioretinal ... |
OMIM:106210 |
Triopia |
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Iris coloboma, Abnormal pupil morphology, Microcornea |
ORPHA:3374 |
Axenfeld-Rieger Syndrome, Type 3 |
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Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
Amoebic Keratitis |
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Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Cataract |
OMIM:263100 |
Iris Hypoplasia With Glaucoma |
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Hypoplasia of the iris, Iris atrophy |
OMIM:308500 |
Axenfeld-Rieger Syndrome, Type 1 |
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Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Cataract |
OMIM:619649 |
Persistent Hyperplastic Primary Vitreous |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Proteus-Like Syndrome |
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Limbal dermoid, Cataract, Abnormal pupil morphology, Heterochromia iridis |
ORPHA:2969 |
Trisomy 9P |
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Abnormal pupil morphology |
ORPHA:236 |
Familial Dysautonomia |
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Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis |
ORPHA:1764 |
Oculopalatocerebral Syndrome |
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Leukocoria |
OMIM:257910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Elevated circulating creatine kinase concentration, Peters anomaly, Cataract, Persis... |
OMIM:613150 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Distal Monosomy 6P |
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Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
Duane Retraction Syndrome |
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Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... |
ORPHA:233 |
Alagille Syndrome |
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Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria |
OMIM:219250 |
Pierson Syndrome |
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Hypoproteinemia, Uveal ectropion, Posterior lenticonus, Rieger anomaly, Cataract, Hypoplasia of t... |
OMIM:609049 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Anisocoria |
ORPHA:289483 |
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, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Ectopia pupillae, Cataract, Astigmatism |
OMIM:618727 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Ectopia pupillae, Cataract, Microcornea, Sclerocornea |
OMIM:615877 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Corneal opacity, Lens subluxation, Hypotriglyceridemia |
ORPHA:85167 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Infant Botulism |
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Keratoconjunctivitis sicca, Hyponatremia, Mydriasis |
ORPHA:178478 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
Charcot-Marie-Tooth Disease Type 1E |
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Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Nephronophthisis 11 |
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Anisocoria |
OMIM:613550 |
Oculocerebrorenal Syndrome Of Lowe |
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Corneal opacity, Hypophosphatemia, Abnormal pupil morphology, Hypokalemia, Buphthalmos, Hypoammon... |
ORPHA:534 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Elevated circulating cr... |
OMIM:175780 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Anisocoria |
OMIM:231550 |
Revesz Syndrome |
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Megalocornea, Leukocoria |
OMIM:268130 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Oculo-Palato-Cerebral Syndrome |
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Cataract, Leukocoria |
ORPHA:2714 |
Trichinellosis |
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Anisocoria, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia |
ORPHA:863 |
Knobloch Syndrome 1 |
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Lens subluxation, Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Develop... |
OMIM:267750 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Ectopia pupillae |
OMIM:618223 |
Norrie Disease |
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Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... |
ORPHA:649 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
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Anisocoria |
OMIM:615510 |
Retinoblastoma |
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Hypopyon, Uveitis, Heterochromia iridis, Leukocoria |
ORPHA:790 |
Bickerstaff Brainstem Encephalitis |
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Anisocoria, Mydriasis |
ORPHA:79138 |
Osteopetrosis, Autosomal Recessive 5 |
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Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Serotonin Syndrome |
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Mydriasis |
ORPHA:43116 |
Pituitary Apoplexy |
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Hyponatremia, Mydriasis |
ORPHA:95613 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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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 |
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Elevated circulating creatine kinase concentration, Mydriasis |
ORPHA:90068 |
Scorpion Envenomation |
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Increased circulating NT-proBNP concentration, Hypokalemia, Increased circulating creatine kinase... |
ORPHA:466677 |
Wolf-Hirschhorn Syndrome |
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Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
Alternating Hemiplegia Of Childhood |
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Mydriasis |
ORPHA:2131 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Abnormal pupil morphology, Ectopia pupillae, Axenfeld anomaly, Microcornea, Astigmatism, Iris col... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma |
OMIM:235730 |
Witteveen-Kolk Syndrome |
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Iris coloboma, Anisocoria, Cataract |
OMIM:613406 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Mydriasis |
OMIM:619351 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Abnormal pupil morphology, Hypokalemia |
ORPHA:286 |
Sponastrime Dysplasia |
|
Congenital aphakia, Microcoria, Cataract |
ORPHA:93357 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Plague |
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Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
Nizon-Isidor Syndrome |
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Iris coloboma |
OMIM:618872 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
ORPHA:178469 |