Human genes for platelet-type bleeding disorder 14
Platelet-type bleeding disorder 14 [DOID:0111047]
A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.
Synonyms: platelet-type bleeding disorder 14, DOID:0111047, platelettype bleeding disorder 14, BDPLT14, thromboxane synthase deficiency ...