platelet-type bleeding disorder 14 (DOID:0111047)
Alliance: disease page
Synonyms: BDPLT14; thromboxane synthase deficiency
Alt IDs: OMIM:614158
Definition: A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.