Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hemoglobin H Disease |
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HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Reticuloendotheliosis, X-Linked |
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Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 16 |
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Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Splenomegaly |
OMIM:619175 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Hyperbilirubinemia, Shunt, Primary |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Tyrosinemia Type 1 |
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Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Erythrocytosis, Familial, 8 |
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Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 42 |
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Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Splenoportal Vascular Anomalies |
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Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Spherocytosis, Type 5 |
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Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Thrombocythemia 1 |
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Splenomegaly, Thrombocytosis |
OMIM:187950 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Elliptocytosis 1 |
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Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... |
OMIM:616860 |
Spherocytosis, Type 4 |
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Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
Spherocytosis, Type 1 |
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Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Spherocytosis, Type 2 |
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Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Isolated Complex I Deficiency |
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Hepatomegaly |
ORPHA:2609 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
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OMIM:618241 |