| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Developmental cataract |
OMIM:212710 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... |
OMIM:610256 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia |
ORPHA:171844 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Neonatal death |
OMIM:273680 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Developmental cataract |
ORPHA:85163 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract |
ORPHA:1383 |
| Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... |
ORPHA:83461 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
| Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma, Microphthalmia |
OMIM:120433 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... |
ORPHA:2334 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
| Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
| Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Death in infancy, Developmental cataract |
OMIM:600559 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
| Nance-Horan Syndrome |
|
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia |
OMIM:302350 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
| Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
| Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... |
OMIM:610202 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Sclerocornea, Ocular anterior ... |
OMIM:269400 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
| Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Developmental cataract |
OMIM:147630 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... |
ORPHA:231736 |
| Cataract 2, Multiple Types |
|
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... |
OMIM:604307 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract, Death in childhood |
OMIM:620425 |
| Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o... |
OMIM:604229 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:129600 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia |
OMIM:161200 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Otodental Syndrome |
|
Cataract, Microcornea, Retinal coloboma, Microphthalmia, Lens coloboma, Iris coloboma |
ORPHA:2791 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cataract, Death in infancy, Microphthalmia |
OMIM:613730 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Sutural cataract |
OMIM:201470 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris co... |
ORPHA:1473 |
| Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Death in childhood, Optic nerve hypoplasia |
OMIM:620609 |
| Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma |
OMIM:618220 |
| Supernumerary Nostril |
|
Microcornea, Developmental cataract |
ORPHA:141096 |
| Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
OMIM:601794 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Chromosome 11P13 Deletion Syndrome, Distal |
|
Aniridia |
OMIM:616902 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Microphthalmia |
ORPHA:363741 |
| Kniest Dysplasia |
|
Aplasia/Hypoplasia of the lens, Cataract, Lens luxation |
ORPHA:485 |
| Morning Glory Disc Anomaly |
|
Cataract, Optic disc coloboma |
ORPHA:35737 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma |
OMIM:212550 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Juvenile Temporal Arteritis |
|
Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| WAGR 11p13 deletion syndrome |
|
Aniridia |
DECIPHER:35 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Aniridia, Developmental glaucoma |
OMIM:206750 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lens coloboma, Microphthalmia |
OMIM:618914 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract |
ORPHA:50814 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract, Punctate cataract |
OMIM:607812 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
| Microphthalmia, Syndromic 5 |
|
Cataract, Microcornea, Anophthalmia, Coloboma, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Weill-Marchesani Syndrome 1 |
|
Cataract, Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:277600 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Corneal opacity, Apl... |
ORPHA:649 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic... |
ORPHA:42775 |
| Weill-Marchesani Syndrome 2 |
|
Cataract, Microspherophakia, Ectopia lentis, Astigmatism, Iridodonesis, Shallow anterior chamber,... |
OMIM:608328 |
| Histiocytoid Cardiomyopathy |
|
Microphthalmia, Congenital aphakia, Corneal opacity, Megalocornea |
ORPHA:137675 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Cataract, Sutural cataract, Nuclear pulverulent cataract, Microphthalmia |
OMIM:612474 |
| Mednik Syndrome |
|
Cataract, Death in childhood, Death in infancy, Neonatal death |
OMIM:609313 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remna... |
OMIM:619539 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Marfan Syndrome |
|
Cataract, Microspherophakia, Ectopia lentis, Hypoplasia of the iris, Astigmatism |
OMIM:154700 |
| Sponastrime Dysplasia |
|
Cataract, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Alopecia-Intellectual Disability Syndrome |
|
|
ORPHA:2850 |
| Hypotrichosis Simplex |
|
|
ORPHA:55654 |
| Hypotrichosis 14 |
|
|
OMIM:618275 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
|
OMIM:618840 |
