| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Mydriasis |
ORPHA:247815 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... |
OMIM:160565 |
| Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Hypoglycemia, Mydriasis |
ORPHA:95613 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hemochromatosis, Type 4 |
|
Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferritin concentra... |
OMIM:606069 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
| Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Atrophic scars, Abnormal circ... |
ORPHA:542643 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Leptospirosis |
|
Uveitis, Chorioretinitis, Hyperproteinemia, Conjunctival hyperemia, Thrombocytopenia |
ORPHA:509 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst |
OMIM:620086 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Abcd Syndrome |
|
Polycythemia, Large for gestational age |
OMIM:600501 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Johanson-Blizzard Syndrome |
|
Failure to thrive, Diabetes mellitus, Hypoproteinemia, Anemia |
ORPHA:2315 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Megalocornea |
|
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... |
OMIM:309300 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive... |
OMIM:615895 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Cataract, Hypoproteinemia |
OMIM:608093 |
| Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
| Short Syndrome |
|
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... |
ORPHA:3163 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Failur... |
ORPHA:1617 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Weight loss, Thrombocytosis, Polycythemia |
ORPHA:2905 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Miosis, Glycosuria, Hypokalemia, Increased circula... |
ORPHA:466677 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Conjunctival icterus, Hyperbilirubinemia, Failure to thrive,... |
OMIM:606812 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Hepat... |
OMIM:607115 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane... |
OMIM:209950 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia of inadequate ... |
OMIM:224120 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro... |
ORPHA:309854 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza... |
ORPHA:91500 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Mydriasis |
ORPHA:90068 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Mydriasis |
ORPHA:2131 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Uveitis, Conjunctivitis, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Conjunctival icterus... |
OMIM:194380 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Inguinal hernia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Muckle-Wells Syndrome |
|
Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration, Conjunctival... |
OMIM:191900 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Increased proinsulin:in... |
OMIM:106210 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Hypoglycemia, Congenital diaphragmatic hernia, Elevated circulating... |
ORPHA:116 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Slow pupilla... |
ORPHA:423479 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, Umbilical hernia |
OMIM:619769 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Ogden Syndrome |
|
Inguinal hernia, Maternal diabetes, Iron deficiency anemia, Minimal subcutaneous fat, Hyperbiliru... |
OMIM:300855 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... |
ORPHA:2298 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Abnormality iris morphology, Congenital diaphragmatic hernia |
ORPHA:250999 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Megalocornea, Cataract, Abnormality iris morphology, Elevated circulating creatine kinase concent... |
ORPHA:370959 |
| Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
| Plague |
|
Splenomegaly, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Congenital contracture... |
OMIM:613150 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Conjunctivitis, Abnormality of neutrophil... |
ORPHA:2968 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Familial Dysautonomia |
|
Hyponatremia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis |
ORPHA:1764 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... |
ORPHA:79277 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Anisocoria, Tonic pupil, Joint contracture of the hand, Slow pupillary... |
ORPHA:90658 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, D... |
ORPHA:124 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... |
ORPHA:233 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Failure to thrive, Corneal dystrophy |
ORPHA:52 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasia,... |
ORPHA:534 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Juvenile Polyposis Syndrome |
|
Brain abscess, Multiple lipomas, Rectocele, Failure to thrive, Hypoproteinemia, Anemia |
ORPHA:2929 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Hepatosplenomeg... |
OMIM:618278 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes... |
ORPHA:330015 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... |
ORPHA:2479 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Revesz Syndrome |
|
Megalocornea, Aplastic anemia, Leukocoria |
OMIM:268130 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Brain abscess, Choriocapillaris atrophy, Polycythemia, Anemia |
OMIM:600376 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Enamel hypoplasia |
OMIM:618727 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Contracture of the proximal interphalangeal joint of the 4th finger, T lym... |
OMIM:618223 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Miosis, Anisocoria, Abnormal pupil shape, Slow pupillary light response |
ORPHA:45358 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Failure to thrive, Acanthocytosis, Decr... |
ORPHA:14 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Failure to thrive, Cataract, Persistent pupillary membrane |
OMIM:257850 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Neuhauser Syndrome |
|
Hypoplasia of the iris, Hypercholesterolemia, Megalocornea, Iridodonesis |
OMIM:249310 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Cogan Syndrome |
|
Keratitis, Leukocytosis, Uveitis, Conjunctivitis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Diabetes mellitus, Small for gestational age, Hypomagnes... |
ORPHA:699 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Retinoblastoma |
|
Leukocoria, Uveitis, Leukemia, Cellulitis, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Brain abscess, Polycythemia, Anemia |
OMIM:187300 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
| Oculodentodigital Dysplasia |
|
Cataract, Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality i... |
ORPHA:2710 |
| Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Failure to thrive, Abnormal pupillary light reflex |
ORPHA:99949 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
| Trichinellosis |
|
Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology |
ORPHA:863 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Retinoblastoma |
|
Leukemia, Leukocoria |
OMIM:180200 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Developmental cataract, Anisocoria, Multiple lipomas, Iris coloboma |
OMIM:181270 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Inguinal hernia, Obesity |
OMIM:618653 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Elbow flexion contractu... |
OMIM:608328 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Lipoatrophy, Small for gestational age, Ectopia lentis, Flexion contracture, Megalo... |
ORPHA:284979 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology |
ORPHA:91387 |
| Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Small for gestational age, Ectopia pupillae, Failure to thrive,... |
OMIM:194190 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Cataract, Small for gestational age, Congenital diaphragmatic hernia, Obesity, C... |
OMIM:613406 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia, Iris atrophy, Recurrent hypoglycemia |
OMIM:620305 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Ec... |
ORPHA:261552 |
| Sponastrime Dysplasia |
|
Cataract, Small for gestational age, Neutropenia, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Abnormal pupil morphology, Cigarette-paper scars, Cystocele, Hypoka... |
ORPHA:286 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy |
OMIM:146500 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma |
OMIM:235730 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy |
OMIM:201180 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Absent anterior chamber of the eye |
OMIM:259770 |
