Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Athrombia, Essential |
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Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:209050 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Platelet Signal Processing Defect |
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Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc... |
OMIM:619271 |
Glanzmann Thrombasthenia 2 |
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Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:619267 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... |
OMIM:615888 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... |
OMIM:273800 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... |
OMIM:614009 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:617443 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Macrothr... |
OMIM:187800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopen... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Immunodeficiency 81 |
|
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... |
OMIM:619374 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired arachidonic acid-induced platelet aggregation, Abnormal dense granule content, Impaired ... |
OMIM:601399 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal number of dense granules, Impaired platelet aggregation |
OMIM:614072 |
Bleeding Disorder, Platelet-Type, 17 |
|
Absence of alpha granules, Thrombocytopenia, Macrothrombocytopenia, Impaired collagen-induced pla... |
OMIM:187900 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-related peptide-induced platelet agg... |
OMIM:153670 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function |
ORPHA:2585 |
Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time |
ORPHA:849 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... |
OMIM:614074 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Bone marrow hypocellularity, Thrombocytopenia, Impaired platelet aggregation |
OMIM:300835 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Wolfram Syndrome 2 |
|
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation |
OMIM:604928 |
Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation |
OMIM:618372 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib |
OMIM:603585 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Impaired ADP-induced platelet aggregation, Absent platelet dens... |
OMIM:608233 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:614075 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia |
ORPHA:903 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... |
ORPHA:274 |
Sitosterolemia 1 |
|
Giant platelets, Thrombocytopenia, Impaired platelet aggregation |
OMIM:210250 |
Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Superficial dermal perivascular inflammatory infiltrate, Thrombocytos... |
ORPHA:324636 |
Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased circulating antibody level, Hydrops fetalis, Impaired ... |
ORPHA:79329 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Increased proportion of CD25+ mast cells, Pleural effusion,... |
ORPHA:167 |
Wiskott-Aldrich Syndrome |
|
Eczematoid dermatitis, Abnormal platelet morphology, Thrombocytopenia, Abnormal platelet function... |
ORPHA:906 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Dehydration, Impaired platelet aggregation |
OMIM:241200 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Thrombocytosis, Impaired neutr... |
ORPHA:2968 |
Noonan Syndrome |
|
Abnormal platelet function, Lymphedema |
ORPHA:648 |
Pseudohypoparathyroidism Type 1A |
|
Abnormal platelet function |
ORPHA:79443 |