Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Uveal Melanoma |
|
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation |
ORPHA:39044 |
Galactosialidosis |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, 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 |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst |
OMIM:620086 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Scoliosis |
ORPHA:101082 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
2Q24 Microdeletion Syndrome |
|
Cataract, Short neck, Abnormality iris morphology |
ORPHA:1617 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Arachnoid Cyst |
|
Back pain, Sciatica, Mydriasis |
ORPHA:2356 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
Trisomy 9P |
|
Abnormal pupil morphology, Sacral dimple, Kyphosis, Short neck, Scoliosis |
ORPHA:236 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Mydriasis, Platyspondyly |
OMIM:619727 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Posterior lenticonus, Chorioretinal coloboma, Microcornea |
ORPHA:231736 |
Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Triopia |
|
Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Alagille Syndrome |
|
Abnormal pupil morphology, Butterfly vertebral arch, Vertebral segmentation defect, Spina bifida ... |
ORPHA:52 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Vertebral segmentation defect, Anterior synechiae ... |
ORPHA:96125 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Central heterochromia, Microcornea, Hypoplastic iris stroma, Spina bif... |
ORPHA:233 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Corneal opacity, Scoliosis |
ORPHA:1764 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Cataract, Heterochromia iridis, Limbal dermoid |
ORPHA:2969 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Spinal rigidity, Buphthalmos, Cataract, Peters anomaly, Scoliosis, Persistent pupillary membrane |
OMIM:613150 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Lens subluxation, Ovoid vertebral bodies, Corneal opacity, Scoliosis, Platyspon... |
ORPHA:85167 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Iridodonesis, Abnormal an... |
ORPHA:2479 |
Plague |
|
Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Cataract, Megalocornea, Abnormality iris morphology |
ORPHA:370959 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t... |
ORPHA:67042 |
Charcot-Marie-Tooth Disease Type 1E |
|
Slow pupillary light response, Tonic pupil, Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
Osteoporosis-Pseudoglioma Syndrome |
|
Biconcave vertebral bodies, Severe platyspondyly, Kyphosis, Absent anterior chamber of the eye, C... |
OMIM:259770 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Short neck, Scoliosis, Ectopia pupillae, Hemivertebrae |
OMIM:618223 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Persistent pupillary membrane, Microcornea |
OMIM:257850 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Knobloch Syndrome 1 |
|
Iris transillumination defect, Slow pupillary light response, Developmental cataract, Spina bifid... |
OMIM:267750 |
Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Scoliosis, Abnormal pupillary light reflex, Neuropathic spinal arthropathy |
ORPHA:99949 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract |
ORPHA:2714 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
Weill-Marchesani Syndrome 2 |
|
Lens luxation, Spinal canal stenosis, Ectopia lentis, Astigmatism, Shallow anterior chamber, Cata... |
OMIM:608328 |
Megalocornea-Mental Retardation Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis |
OMIM:249310 |
Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... |
ORPHA:649 |
Trichinellosis |
|
Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis |
ORPHA:863 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Lentiglobus, Kyphosis, Buphthalmos, Cataract, Platyspondyly, Corneal o... |
ORPHA:534 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Scoliosis |
ORPHA:1556 |
Oculodentodigital Dysplasia |
|
Cataract, Abnormal form of the vertebral bodies, Microcornea, Abnormality iris morphology |
ORPHA:2710 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Scoliosis |
OMIM:618653 |
Retinoblastoma |
|
Leukocoria, Heterochromia iridis, Hypopyon, Uveitis |
ORPHA:790 |
Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... |
OMIM:175780 |
Superficial Siderosis |
|
Anisocoria, Back pain |
ORPHA:247245 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Vertebral fusion, Rieger anomaly, Kyphosis, Iris coloboma, Scoliosis, Ectopia pupi... |
OMIM:194190 |
Sponastrime Dysplasia |
|
Microcoria, Biconcave vertebral bodies, Hyperconvex vertebral body endplates, Platyspondyly, Cata... |
ORPHA:93357 |
Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Iris coloboma, Developmental cataract, Cataract |
OMIM:181270 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Scoliosis, Abnormality iris morphology |
ORPHA:91387 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anterior chamber flare, Posterior synechiae of the anterior chamber, Choroidal neovascularization... |
ORPHA:91500 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
Neonatal Marfan Syndrome |
|
Megalocornea, Iridodonesis, Ectopia lentis |
ORPHA:284979 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy |
OMIM:201180 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Iris coloboma, Scoliosis, Cataract |
OMIM:613406 |
Mowat-Wilson Syndrome |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae |
OMIM:235730 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Axenfeld anomaly, Microcornea, Astigmatism, Iris coloboma, Cataract, S... |
ORPHA:261552 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Keratoconus |
ORPHA:286 |
22Q11.2 Deletion Syndrome |
|
Posterior embryotoxon, Corneal neovascularization, Cataract, Short neck, Scoliosis |
ORPHA:567 |