Platelet Responsiveness To Adrenaline, Depressed |
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Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Platelet Aggregation, Spontaneous |
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Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Thrombocytopenia 7 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Athrombia, Essential |
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Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Thrombocythemia 1 |
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Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Platelet Signal Processing Defect |
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Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 18 |
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Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 24 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 22 |
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Impaired platelet aggregation |
OMIM:618462 |
Glanzmann Thrombasthenia 2 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Glanzmann Thrombasthenia 1 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
Platelet Disorder, Undefined |
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Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 16 |
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Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Mac... |
OMIM:155100 |
+173470 integrin, beta-3 |
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Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Bleeding Disorder, Platelet-Type, 8 |
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Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Pseudo-Von Willebrand Disease |
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Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
Moyamoya Disease With Early-Onset Achalasia |
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Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Von Willebrand Disease |
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Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Bleeding Disorder, Platelet-Type, 21 |
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Impaired platelet aggregation, Thrombocytopenia |
OMIM:617443 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... |
OMIM:601399 |
Quebec Platelet Disorder |
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Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Gray Platelet Syndrome |
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Impaired collagen-induced platelet aggregation, Abnormal number of alpha granules, Impaired throm... |
OMIM:139090 |
Bleeding Disorder, Platelet-Type, 12 |
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Impaired platelet aggregation |
OMIM:605735 |
Bernard-Soulier Syndrome |
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Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Von Willebrand Disease, Type 3 |
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Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:277480 |
Hermansky-Pudlak Syndrome 3 |
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Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Hermansky-Pudlak Syndrome 9 |
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Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Immunodeficiency 81 |
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Reduced natural killer cell activity, Impaired collagen-induced platelet aggregation, Reduced ant... |
OMIM:619374 |
Hermansky-Pudlak Syndrome 7 |
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Impaired platelet aggregation |
OMIM:614076 |
Hermansky-Pudlak Syndrome 5 |
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Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Prolonged bleeding tim... |
OMIM:614074 |
Glanzmann Thrombasthenia |
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Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time |
ORPHA:849 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia |
OMIM:300835 |
Von Willebrand Disease, Type 1 |
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Impaired platelet aggregation, Prolonged bleeding time |
OMIM:193400 |
Hermansky-Pudlak Syndrome 6 |
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Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules |
OMIM:614075 |
Ataxia-Pancytopenia Syndrome |
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Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Hermansky-Pudlak Syndrome 11 |
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Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Impaired platelet aggregation |
OMIM:618372 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Hermansky-Pudlak Syndrome 2 |
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Enlarged platelet dense granules, Reduced natural killer cell activity, Impaired ADP-induced plat... |
OMIM:608233 |
Sitosterolemia 1 |
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Impaired platelet aggregation, Giant platelets, Thrombocytopenia |
OMIM:210250 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Mgat2-Cdg |
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Decreased circulating antibody level, Impaired platelet aggregation, Decreased circulating IgG level |
ORPHA:79329 |
Congenital Disorder Of Glycosylation, Type Iif |
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Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Bartter Syndrome, Type 2, Antenatal |
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Impaired platelet aggregation |
OMIM:241200 |
Leukocyte Adhesion Deficiency |
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Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired pl... |
ORPHA:2968 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia |
ORPHA:324636 |
Chédiak-Higashi Syndrome |
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Abnormality of neutrophil physiology, Increased proportion of CD25+ mast cells, Thrombocytopenia,... |
ORPHA:167 |
Wiskott-Aldrich Syndrome |
|
Thrombocytopenia, Abnormal platelet function, Abnormal platelet morphology, Prolonged bleeding time |
ORPHA:906 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |
Noonan Syndrome |
|
Abnormal platelet function |
ORPHA:648 |