| Term Name: | platelet-type bleeding disorder 8 |
|---|---|
| Synonyms: | ADP platelet receptor P2Y12 defect, P2Y12 defect |
| Definition: | A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. |
| Ontology: | Human Disease [DOID:0060692] ( DOID:0060692 ) |