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platelet-type bleeding disorder 14
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease blood platelet disease
External Links
- Disease Ontology
- DOID:0111047
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P24557 | Thromboxane-A synthase |
