Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Glycoprotein Storage Disease |
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Splenomegaly |
OMIM:232900 |
Fetal Cytomegalovirus Syndrome |
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Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hemoglobin H Disease |
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Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Reticuloendotheliosis, X-Linked |
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Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Immunodeficiency 16 |
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Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Sea-Blue Histiocyte Disease |
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Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Red Cell Phospholipid Defect With Hemolysis |
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Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hyperbilirubinemia, Shunt, Primary |
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Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Erythroleukemia, Familial, Susceptibility To |
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Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly |
OMIM:615947 |
Felty Syndrome |
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Neutropenia, Splenomegaly |
OMIM:134750 |
Portal Hypertension, Noncirrhotic, 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Tyrosinemia Type 1 |
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Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Immunodeficiency 84 |
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B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Mast Cell Sarcoma |
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Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Spherocytosis, Type 5 |
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Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Splenoportal Vascular Anomalies |
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Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Alpha-Thalassemia |
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Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Thrombocythemia 1 |
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Thrombocytosis, Splenomegaly |
OMIM:187950 |
Nephronophthisis 19 |
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Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
Elliptocytosis 1 |
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Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Erythrocytosis, Familial, 8 |
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Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Pancytopenia, Splenomegaly |
OMIM:614979 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Spherocytosis, Type 4 |
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Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Spherocytosis, Type 1 |
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Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Spherocytosis, Type 2 |
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Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Spherocytosis, Splenomegaly |
ORPHA:66518 |
Solute carrier family 4 (anion exchanger), member 1 |
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Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |