Term Name: | platelet-type bleeding disorder 8 |
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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 ) |