Human genes for platelet-type bleeding disorder 17
Platelet-type bleeding disorder 17 [DOID:0111049]
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.
Synonyms: platelet-type bleeding disorder 17, DOID:0111049, platelettype bleeding disorder 17, BDPLT17, hereditary thrombasthenia-thrombocytopenia ...