DISEASES

Disease-gene associations mined from literature

Human genes for platelet-type bleeding disorder 14

Platelet-type bleeding disorder 14 [DOID:0111047]

An inherited blood coagulation 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 ...