platelet-type bleeding disorder 14

Term ID

DOID:0111047

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. https://www.ncbi.nlm.nih.gov/pubmed/6268139

References

• MIM:614158

Ontology

Human Disease   ( DOID:0111047 )