| Term Name: | platelet-type bleeding disorder 21 |
|---|---|
| Synonyms: | BDPLT21 |
| Definition: | A blood platelet disease characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists and that has_material_basis_in heterozygous mutation in the FLI1 gene on chromosome 11q24.3. |
| Ontology: | Human Disease [DOID:0061328] ( DOID:0061328 ) |