Term Name: | platelet-type bleeding disorder 17 |
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Synonyms: | BDPLT17, hereditary thrombasthenia-thrombocytopenia |
Definition: | A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. |
Ontology: | Human Disease [DOID:0111049] ( DOID:0111049 ) |