Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin H Disease |
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Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hypertrophic Neuropathy And Cataract |
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Cataract |
OMIM:239900 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Cataract And Congenital Ichthyosis |
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Cataract |
OMIM:212400 |
Delta-Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract |
OMIM:619813 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
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Progressive cataract, Developmental cataract |
OMIM:611597 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
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Cryptorchidism, Cataract |
OMIM:274205 |
Aldh18A1-Related De Barsy Syndrome |
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Cataract |
ORPHA:35664 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Trichomegaly |
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Cataract |
OMIM:190330 |
Nathalie Syndrome |
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Cataract |
ORPHA:2663 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... |
ORPHA:846 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Cataract, Developmental cataract |
OMIM:613076 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Galactosemia Iv |
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Cataract |
OMIM:618881 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hypoalphalipoproteinemia, Primary, 2 |
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Corneal arcus, Cataract |
OMIM:618463 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Galactosemia Ii |
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Cataract |
OMIM:230200 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Iris Pigment Layer, Cleavage Of |
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Cataract |
OMIM:147610 |
Cataract 50 With Or Without Glaucoma |
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Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Cataract 1, Multiple Types |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aniridia 2 |
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Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Cataract 3, Multiple Types |
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Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Cataract 14, Multiple Types |
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Zonular cataract |
OMIM:601885 |
Coats Disease |
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Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Beta-Thalassemia |
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Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Cholelithiasis, Thrombocytopenia |
ORPHA:848 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hypogonadism-Cataract Syndrome |
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Cataract, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Microcornea, Cataract |
OMIM:619082 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Peroxisome Biogenesis Disorder 11B |
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Cataract, Hepatosplenomegaly |
OMIM:614885 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Myopia 28, Autosomal Recessive |
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Cataract |
OMIM:619781 |
Proteus-Like Syndrome |
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Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Isolated Aniridia |
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Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Isolated Anencephaly |
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Thymus hyperplasia |
ORPHA:563609 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Aniridia 3 |
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Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... |
ORPHA:231222 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Vitreoretinal Degeneration, Snowflake Type |
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Cataract, Corneal guttata |
OMIM:193230 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231214 |
Coloboma, Ocular, Autosomal Recessive |
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Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... |
OMIM:617052 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Elevated circulating luteinizing hormone level |
OMIM:250790 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Norrie Disease |
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Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Cryptorchidism, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Proteus Syndrome |
|
Central heterochromia, Cataract, Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ova... |
ORPHA:744 |