platelet-type bleeding disorder 17 (DOID:0111049)
Alliance: disease page
Synonyms: BDPLT17; hereditary thrombasthenia-thrombocytopenia
Alt IDs: OMIM:187900, ICD10CM:D69.1, MESH:D055652, NCI:C84741, UMLS_CUI:C0272302
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.