| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
| Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
| Iridocorneal Endothelial Syndrome |
|
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
| Uveal Melanoma |
|
Inferior lens subluxation, Iris melanoma, Zonular cataract, Ciliary body melanoma, Retinal detach... |
ORPHA:39044 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
| Microcoria, Congenital |
|
Miosis, Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Megalocornea |
|
Miosis, Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism... |
OMIM:309300 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Aniridia 1 |
|
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... |
OMIM:106210 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Posterior ... |
OMIM:602482 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma, Chorio... |
ORPHA:231736 |
| Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria |
OMIM:300216 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Microcornea, Coloboma, Cataract, Sclerocornea |
OMIM:615877 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Posterior embry... |
OMIM:180500 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Ectopia pupillae, Cataract, Astigmatism |
OMIM:618727 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Colobom... |
ORPHA:85167 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Miosis, Retinal detachment, Iris coloboma, Cataract, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Heterochromia Iridis |
|
Asymmetry of iris pigmentation, Heterochromia iridis |
OMIM:142500 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypochromic microcy... |
OMIM:259720 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism |
ORPHA:54 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
| Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Cataract |
OMIM:263100 |
| Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Microcornea, Chorioretinal coloboma |
OMIM:601706 |
| Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| 2Q24 Microdeletion Syndrome |
|
Coloboma, Cataract, Abnormality iris morphology |
ORPHA:1617 |
| Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Abnormal B cell morphology |
OMIM:618223 |
| Nephronophthisis 11 |
|
Anemia, Anisocoria, Retinal degeneration |
OMIM:613550 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
| Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment |
ORPHA:190 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Pituitary Apoplexy |
|
Normochromic anemia, Mydriasis |
ORPHA:95613 |
| Triopia |
|
Iris coloboma, Abnormal pupil morphology, Microcornea |
ORPHA:3374 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Iris coloboma, Microcornea, Peripheral retinal atrophy |
OMIM:615147 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma |
OMIM:610023 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Microcornea, Retinal he... |
OMIM:175780 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract |
OMIM:616722 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Iris Hypoplasia With Glaucoma |
|
Hypoplasia of the iris, Iris atrophy |
OMIM:308500 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Proteus-Like Syndrome |
|
Abnormal pupil morphology, Splenomegaly, Retinal detachment, Limbal dermoid, Thymus hyperplasia, ... |
ORPHA:2969 |
| Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Panuveitis, Abnormal pupil morphology, Corneal stromal edema, ... |
ORPHA:209959 |
| Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
| Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... |
OMIM:610256 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Optic neuropathy, Optic nerve compression, Mydriasis |
OMIM:619727 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic disc coloboma, Peters anomaly, Op... |
OMIM:120200 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
| Late-Onset Retinal Degeneration |
|
Abnormal suspensory ligament of lens morphology, Macular degeneration, Patchy atrophy of the reti... |
ORPHA:67042 |
| Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
| Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Abnormal anterior chamber morphology, Temporal opt... |
ORPHA:98977 |
| Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Familial Dysautonomia |
|
Corneal opacity, Abnormal pupil morphology, Optic atrophy, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... |
OMIM:609049 |
| Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Iris coloboma, Rieger anomaly, Accessory spleen |
OMIM:194190 |
| Retinoblastoma |
|
Retinal calcification, Leukemia, Leukocoria |
OMIM:180200 |
| Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
| Revesz Syndrome |
|
Megalocornea, Aplastic anemia, Leukocoria |
OMIM:268130 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Tonic pupil, Anisocoria, Abnormal pupil morphology, Slow pupillary light response |
ORPHA:90658 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Anisocoria |
OMIM:231550 |
| Mowat-Wilson Syndrome |
|
Ectopia pupillae, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma |
OMIM:235730 |
| Duane Retraction Syndrome |
|
Hypoplastic iris stroma, Abnormal pupil morphology, Microcornea, Iris coloboma, Central heterochr... |
ORPHA:233 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Oculoauricular Syndrome |
|
Microphakia, Retinal coloboma, Chorioretinal atrophy, Retinal detachment, Posterior embryotoxon, ... |
OMIM:612109 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Megalocornea, Retinal detachment, Coloboma, Optic atrophy, Cataract, Abno... |
ORPHA:370959 |
| Idiopathic Anterior Uveitis |
|
Miosis, Nuclear cataract, Increased cup-to-disc ratio, Posterior subcapsular cataract, Posterior ... |
ORPHA:280914 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Leukocoria, Subretinal pigment epithelium hemorrha... |
ORPHA:790 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology |
ORPHA:250999 |
| Plague |
|
Splenomegaly, Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... |
OMIM:619774 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Retinal coloboma, Ectopia pupillae, Axenfeld anomaly, Microcornea, Ast... |
ORPHA:261552 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Peters anomaly, Cataract, Persistent pupillary membrane |
OMIM:613150 |
| Knobloch Syndrome 1 |
|
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachment, Optic disc pallor,... |
OMIM:267750 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Astigmatism |
ORPHA:261250 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
| Trichinellosis |
|
Anisocoria, Retinal hemorrhage, Abnormal uvea morphology, Conjunctivitis, Conjunctival hyperemia |
ORPHA:863 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Norrie Disease |
|
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Anterior cha... |
ORPHA:649 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
ORPHA:2169 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Abnormal pupillary light reflex, Anisocoria |
ORPHA:99949 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
ORPHA:1556 |
| Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Anisocoria |
OMIM:615510 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Megalocornea-Intellectual Disability Syndrome |
|
Abnormal anterior chamber morphology, Megalocornea, Astigmatism, Iridodonesis, Hypoplasia of the ... |
ORPHA:2479 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Corneal opacity, Abnormal pupil morphology, Buphthalmos, Cataract, Lentiglobus, Chorioretinal dys... |
ORPHA:534 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Spherophakia, Shallow anterior chamber, Spontaneous conjunctival filtering bleb, Cataract, Anteri... |
OMIM:601552 |
| Megalocornea-Mental Retardation Syndrome |
|
Iridodonesis, Megalocornea, Hypoplasia of the iris |
OMIM:249310 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... |
ORPHA:811 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Panuveitis, Abnormality of retinal pigmentation, Papilledema, Iris nevus, Anterior chamber flare,... |
ORPHA:91500 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
| Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Cataract, Absent anterior chamber of the eye, Iris atrophy |
OMIM:259770 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
| Oculodentodigital Dysplasia |
|
Optic atrophy, Cataract, Microcornea, Abnormality iris morphology |
ORPHA:2710 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
| Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, Iris atrophy |
OMIM:201180 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Weill-Marchesani Syndrome 2 |
|
Microspherophakia, Shallow anterior chamber, Lens luxation, Astigmatism, Iridodonesis, Cataract, ... |
OMIM:608328 |
| Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... |
OMIM:619539 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
| Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis |
ORPHA:330015 |
| Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Chorioretinal coloboma |
OMIM:157170 |
| Sponastrime Dysplasia |
|
Congenital aphakia, Microcoria, Cataract, Neutropenia |
ORPHA:93357 |
| Witteveen-Kolk Syndrome |
|
Iris coloboma, Anisocoria, Cataract |
OMIM:613406 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormality iris morphology |
ORPHA:91387 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
| Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Microcornea, Iris coloboma, Developm... |
OMIM:300166 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Megalocornea, Ectopia lentis |
ORPHA:284979 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
| Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |
