| 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/20966167, https://www.ncbi.nlm.nih.gov/pubmed/11196645 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ADP platelet receptor P2Y12 defect [EXACT] P2Y12 defect [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |