Term Name: | platelet-type bleeding disorder 14 |
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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 ) |