Thrombocythemia 3 |
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Thrombocytosis, Ischemic stroke |
OMIM:614521 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Thrombocytopenia 3 |
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Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Thrombocytopenia 1 |
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Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... |
OMIM:313900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Giant platelet syndrome with thrombocytopenia |
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Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 16 |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre... |
OMIM:155100 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
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 |
Platelet Glycoprotein Iv Deficiency |
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Giant platelets, Thrombocytopenia |
OMIM:608404 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Myh9-Related Disease |
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Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... |
ORPHA:182050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
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 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Primary Myelofibrosis |
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Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thrombocytopenia, Leuk... |
ORPHA:824 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Slc35A1-Cdg |
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Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage |
ORPHA:238459 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia |
OMIM:604416 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, Coombs-positive... |
OMIM:614034 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
Bleeding Disorder, Platelet-Type, 19 |
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Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... |
OMIM:153670 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Raynaud phenomenon, Telangiectasia, Leukopenia, Thrombocytosis, Lymphopenia, A... |
OMIM:615934 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Ataxia, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Lethargy, ... |
ORPHA:20 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, Anemia |
OMIM:226300 |
Beta-Ketothiolase Deficiency |
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Ataxia, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis |
ORPHA:134 |
Pelger-Huet Anomaly |
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Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Autoerythrocyte Sensitization Syndrome |
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Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Neuroleptic Malignant Syndrome |
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Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... |
ORPHA:94093 |
Celiac Disease, Susceptibility To, 1 |
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Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive |
OMIM:212750 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Ataxia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, Vascul... |
OMIM:615688 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... |
ORPHA:274 |
Brugada Syndrome |
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Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cogan Syndrome |
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Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
Sitosterolemia 1 |
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Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Congenital Disorder Of Glycosylation, Type Ia |
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Pericarditis, Ataxia, Dysmetria, Cardiomyopathy, Thrombocytosis, Failure to thrive |
OMIM:212065 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Poems Syndrome |
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Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Weight loss |
ORPHA:2905 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Trichohepatoenteric Syndrome 1 |
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Aortic regurgitation, Small for gestational age, Increased mean platelet volume, Splenomegaly, Pu... |
OMIM:222470 |
Congenital Disorder Of Glycosylation, Type Iif |
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Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein... |
OMIM:603585 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
Takenouchi-Kosaki Syndrome |
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Increased mean platelet volume, Thrombocytopenia, Ataxia, Pulmonic stenosis |
OMIM:616737 |
Syndromic Diarrhea |
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Aortic regurgitation, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hy... |
ORPHA:84064 |
Familial Short Qt Syndrome |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... |
OMIM:301074 |
Brucellosis |
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Pericarditis, Transient ischemic attack, Small for gestational age, Hypersplenism, Myocarditis, L... |
ORPHA:1304 |
Interstitial Lung And Liver Disease |
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Thrombocytosis, Failure to thrive, Anemia |
OMIM:615486 |
Congenital Disorder Of Glycosylation, Type Iig |
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Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia |
OMIM:611209 |
Bleeding Disorder, Platelet-Type, 17 |
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Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... |
OMIM:187900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia |
OMIM:618213 |
Short Qt Syndrome 2 |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Lathosterolosis |
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Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
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 |