| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
| Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Type I diabetes ... |
ORPHA:290 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Corneal arcus |
OMIM:245900 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Cataract, Corneal opacity |
ORPHA:317 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:61 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res... |
ORPHA:3163 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Sialidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:87876 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Neurotrophic Keratopathy |
|
Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio... |
ORPHA:137596 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93476 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:309288 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Sialidosis Type 1 |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:812 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Wilson Disease |
|
Splenomegaly, Thrombocytopenia, Anemia, Kayser-Fleischer ring |
ORPHA:905 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia |
OMIM:301056 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion... |
ORPHA:1830 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Farber Disease |
|
Corneal opacity, Hepatosplenomegaly, Anemia, Abnormal conjunctiva morphology, Opacification of th... |
ORPHA:333 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93399 |
| Cystinosis |
|
Type I diabetes mellitus, Corneal opacity |
ORPHA:213 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Congenital Sialidosis Type 2 |
|
Developmental cataract, Cataract, Corneal opacity, Hepatosplenomegaly |
ORPHA:93400 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Cataract, Corneal opacity |
ORPHA:585 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
| Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Tangier Disease |
|
Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity |
OMIM:607015 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Abnormal T cell morphology, Anemia, Astigmatism, Opacification of the corneal strom... |
OMIM:242900 |
| Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
| Gm1 Gangliosidosis |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:354 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity |
ORPHA:584 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Corneal opacity |
OMIM:272200 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
| Hurler Syndrome |
|
Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:607014 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Cataract, Thrombocytopenia, Opacification of the corneal stroma |
OMIM:251290 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Tangier Disease |
|
Splenomegaly, Opacification of the corneal stroma |
OMIM:205400 |
| Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
| Lathosterolosis |
|
Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co... |
ORPHA:46059 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
| Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Corneal opacity |
OMIM:253220 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Mosaic Trisomy 9 |
|
Asplenia, Corneal opacity |
ORPHA:99776 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia, Hypoglycemia |
ORPHA:137675 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity, Eosinophilia |
ORPHA:464 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism |
ORPHA:309282 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma |
OMIM:214110 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anemia |
ORPHA:324 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... |
OMIM:158310 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Corneal opacity |
ORPHA:579 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Hurler Syndrome |
|
Splenomegaly, Corneal opacity |
ORPHA:93473 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma |
ORPHA:581 |
| Wilson Disease |
|
Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Glycosuria, Thrombocytopenia |
OMIM:277900 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
| Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
| Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Thrombocytopenia, Abnormal pupil morphology, Buphthalmos, Lentiglobus,... |
ORPHA:534 |
| Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma, Polysplenia |
OMIM:201000 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi... |
ORPHA:2072 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Opacification of the corneal stroma |
ORPHA:583 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Cataract, Corneal opacity |
ORPHA:1052 |
| 3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Anemia, Corneal opacity |
ORPHA:2908 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity |
OMIM:253200 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
| Gaucher Disease |
|
Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:355 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
| Chime Syndrome |
|
Corneal opacity, Acute leukemia |
ORPHA:3474 |
| Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity |
OMIM:615273 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i... |
ORPHA:636 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris |
ORPHA:564 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
| Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Cataract, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma |
OMIM:614866 |
| Microphthalmia With Linear Skin Defects Syndrome |
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Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217085 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Proboscis Lateralis |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:217093 |
| Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Corneal opacity |
ORPHA:580 |
| Osteogenesis Imperfecta |
|
Corneal opacity, Thrombocytopenia |
ORPHA:666 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
| Oculoectodermal Syndrome |
|
Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
| Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Type II diab... |
ORPHA:904 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
| Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Wolf-Hirschhorn Syndrome |
|
Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
| Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract |
ORPHA:90348 |
| Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Corneal ulceration, Corneal opacity |
ORPHA:740 |
| Mucolipidosis Ii Alpha/Beta |
|
Splenomegaly, Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
| Cockayne Syndrome B |
|
Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c... |
OMIM:133540 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
| Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Type II diabetes mellitus |
ORPHA:3455 |
| Digeorge Syndrome |
|
Sclerocornea, Splenomegaly, Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Thrombocytop... |
OMIM:188400 |
| Hereditary Acrokeratotic Poikiloderma |
|
Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
| Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
| Cockayne Syndrome A |
|
Splenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
| Fryns Syndrome |
|
Opacification of the corneal stroma, Polysplenia |
OMIM:229850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
ORPHA:3472 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
| Yunis-Varon Syndrome |
|
Cataract, Sclerocornea |
OMIM:216340 |
| Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Hypoglycemia, Polysplenia |
ORPHA:373 |
| Keipert Syndrome |
|
|
ORPHA:2662 |
| Keipert Syndrome |
|
|
OMIM:301026 |
