Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
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 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Cataract 31, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Cataract 33, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cortical cataract |
OMIM:611391 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Cataract |
OMIM:263100 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... |
ORPHA:91495 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... |
OMIM:612109 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |