platelet-type bleeding disorder 8

Term ID

DOID:0060692

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. (2)

References

• ICD10CM:D69.8
• OMIM:609821
• ORDO:36355

Ontology

Human Disease   ( DOID:0060692 )