| Term Name: | platelet-type bleeding disorder 15 |
|---|---|
| Synonyms: | autosomal dominant macrothrombocytopenia ACTN1-related, BDPLT15 |
| Definition: | A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. |
| Ontology: | Human Disease [DOID:0111053] ( DOID:0111053 ) |