Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Erythrocytosis, Familial, 1 |
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Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Erythrocytosis, Familial, 2 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia |
ORPHA:284227 |
Hypoglycemia, Leucine-Induced |
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Hyperinsulinemic hypoglycemia, Irritability, Ataxia, Hypoglycemia |
OMIM:240800 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Glut1 Deficiency Syndrome 2 |
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Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability |
OMIM:612126 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hypermanganesemia With Dystonia 1 |
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Bradykinesia, Steppage gait, Polycythemia |
OMIM:613280 |
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 |
Hyperbilirubinemia, Shunt, Primary |
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Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Glutamate-Cysteine Ligase Deficiency |
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Hepatosplenomegaly, Hemolytic anemia, Ataxia, Reticulocytosis |
ORPHA:33574 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Reticulocytosis, Ataxia, Erythroid hyperplasia, Emotional lability |
OMIM:300653 |
Poems Syndrome |
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Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Sclerosis of skull base, Throm... |
ORPHA:2905 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Gaisböck Syndrome |
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Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Incre... |
ORPHA:90041 |
Abcd Syndrome |
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Polycythemia |
OMIM:600501 |
Osteopetrosis, Autosomal Recessive 4 |
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Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Orthostatic Hypotension 2 |
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Hypoglycemia, Anemia |
OMIM:618182 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Classic Galactosemia |
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Ataxia, Hypoglycemia, Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral densi... |
ORPHA:79239 |
Livedoid Vasculopathy |
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Pancytopenia, Diabetes mellitus, Leukocytosis, Polycythemia, Anemia |
ORPHA:542643 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Reticulocytosis |
OMIM:179700 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Splenomegaly, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ata... |
ORPHA:309854 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Ghosal Hematodiaphyseal Dysplasia |
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Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Thrombotic Thrombocytopenic Purpura |
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Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Spherocytosis, Type 4 |
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Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Elliptocytosis 2 |
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Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Familial Pseudohyperkalemia |
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Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Acute Interstitial Pneumonia |
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Reduced hematocrit |
ORPHA:79126 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Spherocytosis, Type 1 |
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Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis |
ORPHA:713 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Fumarase Deficiency |
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Polycythemia |
OMIM:606812 |
Hereditary Spherocytosis |
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Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly... |
ORPHA:822 |
Imerslund-Gräsbeck Syndrome |
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Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Ogden Syndrome |
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Maternal diabetes, Iron deficiency anemia, Irritability, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Hypoglycemia, Anemia |
OMIM:618838 |
Von Hippel-Lindau Syndrome |
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Polycythemia |
OMIM:193300 |
Sitosterolemia 1 |
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Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... |
OMIM:210250 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Polyendocrine-Polyneuropathy Syndrome |
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Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Hypoglycemia |
OMIM:616113 |
Glycogen Storage Disease Vii |
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Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis |
OMIM:232800 |
Harderoporphyria |
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Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Osteomyelitis, Leukocytosis, Hyperinsulinemic hypoglycemia, Abnormality o... |
ORPHA:2968 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Beckwith-Wiedemann Syndrome |
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Splenomegaly, Polycythemia, Neonatal hypoglycemia, Hypoglycemia |
ORPHA:116 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Confusion, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Cognitive impairment, Thrombo... |
OMIM:235400 |
Von Hippel-Lindau Disease |
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Polycythemia |
ORPHA:892 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Normochromic anemia, Reduced hematocrit |
ORPHA:91500 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Polycythemia, Anemia |
OMIM:600376 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Polycythemia, Anemia |
OMIM:187300 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Congenital Erythropoietic Porphyria |
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Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... |
ORPHA:79277 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Reticulocytosis, Leukocytosis, Schistocytosis, Irritability, Microangiopathic hemolytic anemia, T... |
ORPHA:90038 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |