| Metadata | |
|---|---|
| ID | DOID:0111057 |
| Name | platelet-type bleeding disorder 11 |
| Definition | A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19549989, https://www.ncbi.nlm.nih.gov/pubmed/19552682 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDPLT11 [EXACT] glycoprotein VI deficiency [EXACT] GP VI deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some bleeding has material basis in some autosomal recessive inheritance |