Metadata | |
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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 |