Thrombocythemia 3 |
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Thrombocytosis, Ischemic stroke |
OMIM:614521 |
Polycythemia Vera |
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Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
Thrombocytopenia 3 |
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Epistaxis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Bleeding Disorder, Platelet-Type, 15 |
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Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Thrombocythemia 1 |
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Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Immunodeficiency 69 |
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Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
Acquired Idiopathic Sideroblastic Anemia |
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Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Cong... |
ORPHA:75564 |
Thrombocytopenia 4 |
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Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Thrombocytopenia 1 |
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Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... |
OMIM:313900 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Bleeding Disorder, Platelet-Type, 24 |
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Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Asplenia, Isolated Congenital |
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Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Vasculitis in the skin, Failure to thrive, Decreased mean platelet volume, Thrombo... |
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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Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Platelet Glycoprotein Iv Deficiency |
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Thrombocytopenia, Giant platelets |
OMIM:608404 |
Bernard-Soulier Syndrome |
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Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... |
OMIM:231200 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Myh9-Related Disease |
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Spontaneous, recurrent epistaxis, Myocardial infarction, Giant platelets, Congenital thrombocytop... |
ORPHA:182050 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Wiskott-Aldrich Syndrome |
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Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... |
OMIM:301000 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta... |
OMIM:617780 |
Immunodeficiency 27A |
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Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly |
OMIM:209950 |
Immunodeficiency 14B, Autosomal Recessive |
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B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Primary Myelofibrosis |
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Anemia, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis,... |
ORPHA:824 |
Slc35A1-Cdg |
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Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly |
OMIM:604416 |
Heme Oxygenase 1 Deficiency |
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Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... |
OMIM:614034 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Bleeding Disorder, Platelet-Type, 19 |
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Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Familial Thrombocytosis |
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Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Weight loss, Transien... |
ORPHA:71493 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Leukopenia, Anemia, Weight loss, Cardiac arrest, Dilated cardiomyopathy, Ataxia, Thr... |
ORPHA:20 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Leukopenia, Anemia, Telangiectasia, Raynaud phenomenon, Lymphopenia, Failure to thrive, Thrombocy... |
OMIM:615934 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Pulmonary embolism, Anemia, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome |
OMIM:226300 |
Beta-Ketothiolase Deficiency |
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Hypotension, Weight loss, Hypertension, Ataxia, Thrombocytosis, Leukocytosis |
ORPHA:134 |
Pelger-Huet Anomaly |
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Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... |
OMIM:169400 |
Atrial Fibrillation, Familial, 18 |
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Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Immunodeficiency 92 |
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B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Autoerythrocyte Sensitization Syndrome |
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Intracranial hemorrhage, Autoimmune thrombocytopenia, Epistaxis, Abnormal erythrocyte morphology,... |
ORPHA:324636 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:243150 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Spontaneous, recurrent epistaxis, Gastrointestinal hemor... |
ORPHA:274 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukopenia, Anemia, Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Hepatosplenomegaly,... |
OMIM:615688 |
Neuroleptic Malignant Syndrome |
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Hypotension, Pulmonary embolism, Hypertension, Hypertensive crisis, Thrombocytosis, Leukocytosis,... |
ORPHA:94093 |
Brugada Syndrome |
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Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Sitosterolemia 1 |
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Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
Cogan Syndrome |
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Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis |
ORPHA:1467 |
Celiac Disease, Susceptibility To, 1 |
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Weight loss, Ataxia, Failure to thrive, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Ia |
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Ataxia, Pericarditis, Failure to thrive, Dysmetria, Thrombocytosis, Cardiomyopathy |
OMIM:212065 |
Idiopathic Hypereosinophilic Syndrome |
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Pulmonary embolism, Anemia, Transient ischemic attack, Supraventricular arrhythmia, Raynaud pheno... |
ORPHA:3260 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Blackfan-Diamond Anemia |
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Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Small for gestational age, Pure red cell a... |
ORPHA:124 |
Poems Syndrome |
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Pulmonary arterial hypertension, Thrombocytosis, Polycythemia, Weight loss |
ORPHA:2905 |
Long Qt Syndrome 15 |
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Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Hepatocellular Carcinoma |
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Hypotension, Anemia, Weight loss, Polycythemia, Internal hemorrhage, Thrombocytopenia, Thrombocyt... |
ORPHA:88673 |
Diamond-Blackfan Anemia 1 |
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Reticulocytopenia, Congestive heart failure, Failure to thrive, Thrombocytosis, Tricuspid stenosi... |
OMIM:105650 |
Congenital Disorder Of Glycosylation, Type Iif |
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Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Ataxia, Macrothrombocytopenia, Aortic r... |
OMIM:603585 |
Trichohepatoenteric Syndrome 1 |
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Small for gestational age, Pulmonic stenosis, Increased mean platelet volume, Aortic regurgitatio... |
OMIM:222470 |
Takenouchi-Kosaki Syndrome |
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Thrombocytopenia, Increased mean platelet volume, Pulmonic stenosis, Ataxia |
OMIM:616737 |
Syndromic Diarrhea |
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Hypoplasia of the thymus, Small for gestational age, Increased mean platelet volume, Lymphopenia,... |
ORPHA:84064 |
Familial Short Qt Syndrome |
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Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Brucellosis |
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Leukopenia, Anemia, Weight loss, Small for gestational age, Transient ischemic attack, Hypersplen... |
ORPHA:1304 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Reduced natural killer cell count, Weight loss, Lymphocytosis, Thrombocytosis, Decreased proporti... |
OMIM:301074 |
Interstitial Lung And Liver Disease |
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Failure to thrive, Anemia, Thrombocytosis |
OMIM:615486 |
Congenital Disorder Of Glycosylation, Type Iig |
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Thrombocytopenia, Failure to thrive in infancy, Anemia, Giant platelets |
OMIM:611209 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Epistaxis, Increased RB... |
OMIM:187900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Failure to thrive, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Short Qt Syndrome 2 |
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Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Lathosterolosis |
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Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc... |
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, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... |
ORPHA:2968 |
Doors Syndrome |
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Thrombocytosis |
ORPHA:79500 |