Platelet Aggregation, Spontaneous |
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Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Thrombocytopenia 7 |
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Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Athrombia, Essential |
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Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
Platelet Responsiveness To Adrenaline, Depressed |
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Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Thrombocythemia 1 |
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Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 24 |
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Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Platelet Signal Processing Defect |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 16 |
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Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 22 |
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Impaired platelet aggregation |
OMIM:618462 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Glanzmann Thrombasthenia 2 |
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Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
Von Willebrand Disease |
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Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Bleeding Disorder, Platelet-Type, 11 |
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Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... |
OMIM:614201 |
Platelet Disorder, Undefined |
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Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Glanzmann Thrombasthenia 1 |
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Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Pseudo-Von Willebrand Disease |
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Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Moyamoya Disease With Early-Onset Achalasia |
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Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Platelet Glycoprotein Iv Deficiency |
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Prolonged bleeding time, Thrombocytopenia, Giant platelets |
OMIM:608404 |
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, Leu... |
OMIM:155100 |
Thrombocytopenia 4 |
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Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Glanzmann Thrombasthenia |
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Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Ataxia-Pancytopenia Syndrome |
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Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
Hermansky-Pudlak Syndrome 9 |
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Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Bleeding Disorder, Platelet-Type, 15 |
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Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 8 |
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Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Gray Platelet Syndrome |
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Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Prolonged blee... |
OMIM:139090 |
Quebec Platelet Disorder |
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Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Bernard-Soulier Syndrome |
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Thrombocytopenia, Giant platelets, Prolonged bleeding time, Macrothrombocytopenia, Impaired risto... |
OMIM:231200 |
Von Willebrand Disease, X-Linked Form |
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Prolonged bleeding time |
OMIM:314560 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Immunodeficiency 81 |
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Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... |
OMIM:619374 |
Von Willebrand Disease, Type 3 |
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Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Hermansky-Pudlak Syndrome 3 |
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Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Prolonged blee... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 12 |
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Impaired platelet aggregation |
OMIM:605735 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Storage Pool Platelet Disease |
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Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Hermansky-Pudlak Syndrome 5 |
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Prolonged bleeding time, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent plat... |
OMIM:614074 |
Sitosterolemia 1 |
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Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
Chronic Intestinal Pseudoobstruction |
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Abnormal platelet morphology |
ORPHA:2978 |
Hermansky-Pudlak Syndrome 7 |
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Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets |
OMIM:137560 |
Slc35A1-Cdg |
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Abnormal platelet granules, Giant platelets, Prolonged bleeding time, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Congenital Disorder Of Glycosylation, Type Iif |
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Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia |
OMIM:603585 |
Asplenia, Isolated Congenital |
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Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Hermansky-Pudlak Syndrome 6 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
Essential Thrombocythemia |
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Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time, Acute leukemi... |
ORPHA:3318 |
Hermansky-Pudlak Syndrome 11 |
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Impaired collagen-induced platelet aggregation, Reduced platelet dense granules |
OMIM:619172 |
Von Willebrand Disease, Type 1 |
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Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Hermansky-Pudlak Syndrome 2 |
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Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
Myh9-Related Disease |
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Giant platelets, Prolonged bleeding time, Congenital thrombocytopenia, Neutrophil inclusion bodie... |
ORPHA:182050 |
Wolfram Syndrome 2 |
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Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Wiskott-Aldrich Syndrome |
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Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
Chédiak-Higashi Syndrome |
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Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Increased prop... |
ORPHA:167 |
Autoerythrocyte Sensitization Syndrome |
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Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation |
OMIM:614077 |
Mgat2-Cdg |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... |
ORPHA:79329 |
Thrombocytopenia 1 |
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Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... |
OMIM:313900 |
Noonan Syndrome |
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Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
Pseudohypoparathyroidism Type 1A |
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Abnormal platelet function |
ORPHA:79443 |
Leukocyte Adhesion Deficiency |
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Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... |
ORPHA:2968 |
Bartter Syndrome, Type 2, Antenatal |
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Impaired platelet aggregation |
OMIM:241200 |
Lathosterolosis |
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Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
Myofibrillar Myopathy 10 |
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OMIM:619040 |