| Metadata | |
|---|---|
| ID | DOID:0111050 |
| Name | Quebec platelet disorder |
| Definition | A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/18988861, https://www.ncbi.nlm.nih.gov/pubmed/20007542 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT5 [EXACT] factor V Quebec [EXACT] platelet-type bleeding disorder 5 [EXACT] |
| Parent Relationships |