Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Cataract 1, Multiple Types |
|
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... |
OMIM:116200 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... |
OMIM:616689 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cataract 15, Multiple Types |
|
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract |
OMIM:615274 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... |
OMIM:619041 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Ectopia lentis, Primary congenital glaucoma |
OMIM:613086 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:261000 |
Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... |
OMIM:617319 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract |
OMIM:601547 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis |
ORPHA:90044 |
Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... |
ORPHA:232 |
Cataract 5, Multiple Types |
|
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract |
OMIM:116800 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
Dehydrated Hereditary Stomatocytosis |
|
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... |
ORPHA:3202 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 17, Multiple Types |
|
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract |
OMIM:611544 |
Anterior Segment Dysgenesis 7 |
|
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos |
OMIM:269400 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus |
OMIM:614303 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Cataract 30, Multiple Types |
|
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract |
OMIM:116300 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Peters Anomaly |
|
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... |
ORPHA:708 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia, Cataract |
OMIM:257790 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 16, Multiple Types |
|
Developmental cataract, Posterior polar cataract |
OMIM:613763 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane |
ORPHA:1067 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... |
OMIM:107250 |
Cataract 31, Multiple Types |
|
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis |
OMIM:141700 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... |
ORPHA:98870 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... |
OMIM:300835 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Amoebic Keratitis |
|
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... |
ORPHA:67043 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
Anterior Segment Dysgenesis 2 |
|
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... |
OMIM:610256 |
Autosomal Dominant Keratitis |
|
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... |
ORPHA:2334 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis |
OMIM:166910 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation |
ORPHA:67048 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Exudative Vitreoretinopathy 6 |
|
Cataract |
OMIM:616468 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Cataract 40 |
|
Sutural cataract, Nuclear cataract |
OMIM:302200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract |
OMIM:120433 |
Cataract 6, Multiple Types |
|
Developmental cataract, Posterior polar cataract |
OMIM:116600 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Cataract, Developmental cataract |
OMIM:614482 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Norrie Disease |
|
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris |
OMIM:310600 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Blackfan-Diamond Anemia |
|
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... |
ORPHA:124 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
ORPHA:2169 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Cataract, Microcoria |
OMIM:263100 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... |
OMIM:221900 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia |
ORPHA:261250 |
Diamond-Blackfan Anemia 7 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612562 |
Shwachman-Diamond Syndrome |
|
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Transient ... |
ORPHA:811 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Aniridia 1 |
|
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... |
OMIM:106210 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Corneal erosion, Anterior lenticonus |
OMIM:203780 |
Persistent Hyperplastic Primary Vitreous |
|
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... |
OMIM:612109 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Band keratopathy, Cataract, Iron deficiency anemia, Asplenia, Keratoconjunctivitis |
OMIM:269200 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
|
OMIM:618572 |