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 )

Relationships
is a type of: autosomal dominant disease blood platelet disease