| Term Name: | platelet-type bleeding disorder 14 |
|---|---|
| Synonyms: | BDPLT14, thromboxane synthase deficiency |
| 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. |
| Ontology: | Human Disease [DOID:0111047] ( DOID:0111047 ) |