Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Thrombocythemia 3 |
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Thrombocytosis |
OMIM:614521 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thrombocytopenia 7 |
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Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Platelet Glycoprotein Iv Deficiency |
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Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Athrombia, Essential |
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Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Platelet Signal Processing Defect |
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Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Bleeding Disorder, Platelet-Type, 16 |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Primary Myelofibrosis |
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Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Red... |
OMIM:314050 |
Platelet Disorder, Undefined |
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Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 11 |
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Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Heme Oxygenase 1 Deficiency |
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Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Storage Pool Platelet Disease |
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Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Autoerythrocyte Sensitization Syndrome |
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Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Leukopenia, Lymphopenia, Thrombocytosis, Anemia |
OMIM:615934 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... |
OMIM:601399 |
Celiac Disease, Susceptibility To, 1 |
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Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Prolonged prothrombin time |
OMIM:212750 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Prolonged prothrombin time |
OMIM:212065 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Beta-Ketothiolase Deficiency |
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Thrombocytosis, Leukocytosis |
ORPHA:134 |
Cryohydrocytosis |
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Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Poems Syndrome |
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Thrombocytosis, Polycythemia |
ORPHA:2905 |
Cogan Syndrome |
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Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop... |
OMIM:615688 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas... |
OMIM:301074 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Interstitial Lung And Liver Disease |
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Thrombocytosis, Anemia |
OMIM:615486 |
Trichohepatoenteric Syndrome 1 |
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Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Neuroleptic Malignant Syndrome |
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Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Syndromic Diarrhea |
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Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Brucellosis |
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Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia |
ORPHA:1304 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Doors Syndrome |
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Thrombocytosis |
ORPHA:79500 |