| Metadata | |
|---|---|
| ID | DOID:0111047 |
| Name | platelet-type bleeding disorder 14 |
| 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 |
| Xrefs | |
| Synonyms |
BDPLT14 [EXACT] thromboxane synthase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal dominant inheritance |