Ontologiesccoclasses187900   
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Bleeding disorder, platelet-type 17Imported
http://identifiers.org/omim/187900

(BDPLT17) - An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery.

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BDPLT17

preferred label

Bleeding disorder, platelet-type 17

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