platelet-type bleeding disorder 8 (DOID:0060692)
Alliance: disease page
Synonyms: ADP platelet receptor P2Y12 defect; P2Y12 defect
Alt IDs: OMIM:609821, ICD10CM:D69.8, ORDO:36355
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.