Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... |
OMIM:613702 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract |
ORPHA:39044 |
Galactosialidosis |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Microcoria, Congenital |
|
Miosis, Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma |
OMIM:614497 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis |
OMIM:616566 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst |
OMIM:620086 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Scoliosis |
ORPHA:101082 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
Miller Fisher Syndrome |
|
Mydriasis, Anisocoria |
ORPHA:98919 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
2Q24 Microdeletion Syndrome |
|
Cataract, Short neck, Abnormality iris morphology |
ORPHA:1617 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Neovascular Glaucoma |
|
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... |
ORPHA:94058 |
X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Arachnoid Cyst |
|
Mydriasis, Back pain, Sciatica |
ORPHA:2356 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
Trisomy 9P |
|
Abnormal pupil morphology, Short neck, Scoliosis, Kyphosis, Sacral dimple |
ORPHA:236 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Mydriasis, Increased intervertebral space |
OMIM:619727 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Alagille Syndrome |
|
Keratoconus, Abnormal form of the vertebral bodies, Abnormal pupil morphology, Vertebral segmenta... |
ORPHA:52 |
Distal Deletion 6P |
|
Ectopia pupillae, Hypoplasia of the iris, Vertebral segmentation defect, Anterior synechiae of th... |
ORPHA:96125 |
Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... |
OMIM:612109 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
Retinitis Pigmentosa 97 |
|
Iris atrophy |
OMIM:620422 |
Duane Retraction Syndrome |
|
Microcornea, Abnormal form of the vertebral bodies, Chorioretinal coloboma, Central heterochromia... |
ORPHA:233 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Scoliosis, Corneal erosion |
ORPHA:1764 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Proteus-Like Syndrome |
|
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid |
ORPHA:2969 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Ectopia pupillae, Corneal opacity, Lens subluxation, Scoliosis, Ovoid vertebral bo... |
ORPHA:85167 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Peters anomaly, Buphthalmos, Persistent pupillary membrane, Scoliosis, Spinal rigidity |
OMIM:613150 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Ectopia pupillae, Severe platyspondyly, Corneal opacity, Lens subluxation, Scolios... |
OMIM:608940 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Lumbar hyperlordosis, Abnormality iris morphology, Megalocornea |
ORPHA:370959 |
Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria |
ORPHA:90658 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... |
ORPHA:67042 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria |
ORPHA:45358 |
Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Cataract, Biconcave vertebral bodies, Kyphoscoliosis, Iris atrophy, Severe platysp... |
OMIM:259770 |
Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal anterior chamber morphology |
ORPHA:98977 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Short neck, Hemivertebrae, Scoliosis, Kyphosis |
OMIM:618223 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Iris transillumination defect, Cortical cataract, Develo... |
OMIM:267750 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
Charcot-Marie-Tooth Disease Type 4C |
|
Abnormal pupillary light reflex, Anisocoria, Scoliosis, Neuropathic spinal arthropathy |
ORPHA:99949 |
Traboulsi Syndrome |
|
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... |
OMIM:601552 |
Neuhauser Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis, Iris transillumination defect, Corneal arcus |
OMIM:249310 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Ectopia lentis, Spinal canal stenosis, Lumbar hyperlordosis, Astigma... |
OMIM:608328 |
Trichinellosis |
|
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria |
ORPHA:863 |
Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Cataract, Lentiglobus, Abnormal pupil morphology, Chorioretinal dysplasia, Corneal... |
ORPHA:534 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Scoliosis |
ORPHA:1556 |
Oculodentodigital Dysplasia |
|
Cataract, Microcornea, Abnormality iris morphology, Abnormal form of the vertebral bodies |
ORPHA:2710 |
Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Scoliosis |
OMIM:618653 |
Superficial Siderosis |
|
Anisocoria, Back pain |
ORPHA:247245 |
Retinoblastoma |
|
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis |
ORPHA:790 |
Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... |
OMIM:175780 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Anisocoria, Iris coloboma, Developmental cataract |
OMIM:181270 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Abnormal form of the vertebral bodies, Ectopia pupillae, Rieger anomaly, Vertebral... |
OMIM:194190 |
Sponastrime Dysplasia |
|
Platyspondyly, Cataract, Abnormality of the vertebral column, Lumbar hyperlordosis, Biconcave ver... |
ORPHA:93357 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Scoliosis, Abnormality iris morphology |
ORPHA:91387 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... |
ORPHA:91500 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Ectopia lentis, Megalocornea |
ORPHA:284979 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy |
OMIM:201180 |
Witteveen-Kolk Syndrome |
|
Cataract, Iris coloboma, Anisocoria, Scoliosis |
OMIM:613406 |
Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma |
OMIM:235730 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism... |
ORPHA:261552 |
Neurooculorenal Syndrome |
|
Iris atrophy |
OMIM:620305 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
22Q11.2 Deletion Syndrome |
|
Cataract, Corneal neovascularization, Short neck, Posterior embryotoxon, Scoliosis |
ORPHA:567 |