| Term Name: | platelet-type bleeding disorder 24 |
|---|---|
| Synonyms: | BDPLT24, glanzmann thrombasthenia-like with macrothrombocytopenia 2 |
| Definition: | A blood platelet disease characterized by an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis and that has_material_basis_in heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32. |
| Ontology: | Human Disease [DOID:0061330] ( DOID:0061330 ) |