Visualize Submit Comment
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

OMIM: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

Add an item to the term tracker