Glanzmann Thrombasthenia 2 |
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Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Thrombocytopenia 7 |
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Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Glanzmann Thrombasthenia 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
Platelet Signal Processing Defect |
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Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Athrombia, Essential |
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Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Glanzmann Thrombasthenia |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
Moyamoya Disease With Early-Onset Achalasia |
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Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
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, 11 |
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Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
Thrombocythemia 1 |
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Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 22 |
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Impaired platelet aggregation |
OMIM:618462 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 8 |
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Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Bleeding Disorder, Platelet-Type, 21 |
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Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Von Willebrand Disease |
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Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Platelet Responsiveness To Adrenaline, Depressed |
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Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Bleeding Disorder, Platelet-Type, 16 |
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Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... |
OMIM:231200 |
Platelet Disorder, Undefined |
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Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
Von Willebrand Disease, Type 3 |
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Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Hermansky-Pudlak Syndrome 3 |
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Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Hermansky-Pudlak Syndrome 9 |
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Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Gray Platelet Syndrome |
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Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 12 |
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Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis |
OMIM:605735 |
Von Willebrand Disease, X-Linked Form |
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Prolonged bleeding time |
OMIM:314560 |
Ataxia-Pancytopenia Syndrome |
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Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Bleeding Disorder, Platelet-Type, 17 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
Quebec Platelet Disorder |
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Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Von Willebrand Disease, Type 1 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... |
OMIM:193400 |
Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Sitosterolemia 1 |
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Carotid artery stenosis, Thrombocytopenia, Giant platelets, Xanthelasma, Arthritis, Hypercholeste... |
OMIM:210250 |
Tatsumi Factor Deficiency |
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Prolonged bleeding time |
OMIM:272650 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Immunodeficiency 81 |
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Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iif |
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Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Hermansky-Pudlak Syndrome 5 |
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Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg... |
OMIM:153670 |
Bleeding Disorder, Platelet-Type, 14 |
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Prolonged bleeding time, Epistaxis |
OMIM:614158 |
Platelet Glycoprotein Iv Deficiency |
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Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Wiskott-Aldrich Syndrome |
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Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Hermansky-Pudlak Syndrome 6 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
Slc35A1-Cdg |
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Prolonged bleeding time, Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia... |
ORPHA:238459 |
Myh9-Related Disease |
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Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... |
ORPHA:182050 |
Factor V Deficiency |
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Prolonged bleeding time, Prolonged prothrombin time, Epistaxis |
OMIM:227400 |
Bernard-Soulier Syndrome |
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Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... |
ORPHA:274 |
Hermansky-Pudlak Syndrome 11 |
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Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules |
OMIM:619172 |
Blue Rubber Bleb Nevus |
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Prolonged bleeding time, Intestinal bleeding, Skin rash |
ORPHA:1059 |
Autoerythrocyte Sensitization Syndrome |
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Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Neurofibromatosis-Noonan Syndrome |
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Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Prolonged bleeding time, Epistaxis, Reduced platelet alpha granules, Increased mean platelet volu... |
OMIM:314050 |
Hermansky-Pudlak Syndrome 2 |
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Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Essential Thrombocythemia |
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Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Mgat2-Cdg |
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Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, Decreased circulating... |
ORPHA:79329 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial skin infections, Hypertriglyceridemia, Skin rash, Epistaxis, Increased propor... |
ORPHA:167 |
Thrombocytopenia, Paris-Trousseau Type |
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Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Prothrombin Deficiency, Congenital |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... |
OMIM:613679 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
Hemophilia B |
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Intracranial hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Joint hemorrhage |
ORPHA:98879 |
Noonan Syndrome |
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Pulmonary artery stenosis, Arrhythmia, Abnormal platelet function |
ORPHA:648 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Leukocyte Adhesion Deficiency |
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Chronic oral candidiasis, Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent sk... |
ORPHA:2968 |
Pseudohypoparathyroidism Type 1A |
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Prolonged QT interval, Hypertension, Conjunctivitis, Abnormal platelet function |
ORPHA:79443 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Impaired platelet aggregation |
OMIM:618372 |
Mixed Connective Tissue Disease |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Skin rash, Gastriti... |
ORPHA:809 |
Wiskott-Aldrich Syndrome |
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Prolonged bleeding time, Epistaxis, Eczema, Increased circulating IgA level, Hematemesis, Reduced... |
OMIM:301000 |
Hermansky-Pudlak Syndrome 1 |
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Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Inflammation of the large intes... |
OMIM:203300 |
Storage Pool Platelet Disease |
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Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperaldosteronism, Impaired platelet aggregation, Low-to-normal blood pressure |
OMIM:241200 |