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Metadata
ID	DOID:0060692
Name	platelet-type bleeding disorder 8
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. https://www.ncbi.nlm.nih.gov/pubmed/11196645, https://www.ncbi.nlm.nih.gov/pubmed/20966167
Xrefs	ICD10CM:D69.8 MIM:609821 ORDO:36355
Subsets	DO_rare_slim
Synonyms	ADP platelet receptor P2Y12 defect [EXACT] P2Y12 defect [EXACT]
Parent Relationships	is_a blood platelet disease is_a autosomal recessive disease