| Metadata | |
|---|---|
| ID | DOID:0111058 |
| Name | platelet-type bleeding disorder 12 |
| Definition | A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. https://www.ncbi.nlm.nih.gov/pubmed/8562397 |
| Xrefs | |
| Synonyms |
BDPLT12 [EXACT] PGHS1 deficiency [EXACT] platelet COX1 deficiency [EXACT] platelet cyclooxygenase 1 deficiency [EXACT] platelet prostaglandin-endoperoxide synthase 1 deficiency [EXACT] |
| Parent Relationships |