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platelet-type bleeding disorder 8

Disease Summary
Associated Targets (3)
Tclin

1

Tchem

1

Tdark

1


GARD Rare
Mondo Description P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.
Uniprot Description A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation.
Disease Ontology Description An inherited blood coagulation 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.
Mondo Term and Equivalent IDs
MONDO:0012354:  platelet-type bleeding disorder 8
GARD:0012478: 
MESH:C565220: 
Orphanet:36355: 
SCTID:725291001: 
UMLS:C1853278: