Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Cephalin Lipidosis |
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Abnormality of the spleen |
OMIM:212800 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Tuftsin Deficiency |
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Abnormality of the spleen |
OMIM:191150 |
Diamond-Blackfan Anemia 19 |
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Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Sideroblastic, 4 |
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Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Heinz Body Anemias |
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Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Reticuloendotheliosis, X-Linked |
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Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Hemoglobin H Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Delta-Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Glutamate-Cysteine Ligase Deficiency |
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Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Ceroid storage disease |
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Abnormality of the spleen |
OMIM:214200 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Elliptocytosis 2 |
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Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Abcd Syndrome |
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Polycythemia |
OMIM:600501 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Hypermanganesemia With Dystonia 1 |
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Hepatomegaly, Polycythemia, Cirrhosis |
OMIM:613280 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Glut1 Deficiency Syndrome 2 |
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Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Gaisböck Syndrome |
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Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Thrombocythemia 1 |
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Splenomegaly, Thrombocytosis |
OMIM:187950 |
Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Harderoporphyria |
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Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Elliptocytosis 3 |
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Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Pyropoikilocytosis, Hereditary |
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Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
Livedoid Vasculopathy |
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Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Acute Interstitial Pneumonia |
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Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Poems Syndrome |
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Thrombocytosis, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Phosphoglycerate Kinase 1 Deficiency |
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Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Imerslund-Gräsbeck Syndrome |
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Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Hereditary Spherocytosis |
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Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Thrombotic Thrombocytopenic Purpura |
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Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Sitosterolemia 1 |
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Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Fumarase Deficiency |
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Intrahepatic cholestasis, Polycythemia |
OMIM:606812 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Glycogen Storage Disease Vii |
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Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Ogden Syndrome |
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Microvesicular hepatic steatosis, Jaundice, Iron deficiency anemia, Macrovesicular hepatic steato... |
OMIM:300855 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... |
OMIM:274150 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone marrow hypocellula... |
ORPHA:2968 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Polycythemia, Exocrine ... |
ORPHA:116 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:600376 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia |
OMIM:187300 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... |
ORPHA:90038 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |