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Metadata
DOID DOID:0060692
Name platelet-type bleeding disorder 8
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/11196645, https://www.ncbi.nlm.nih.gov/pubmed/20966167
Synonyms

ADP platelet receptor P2Y12 defect [EXACT]

P2Y12 defect [EXACT]

Xrefs

ICD10CM:D69.8

OMIM:609821

ORDO:36355

Relationships

is_a inherited blood coagulation disease

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