| Metadata | |
|---|---|
| ID | DOID:0060691 |
| Name | platelet-type bleeding disorder 16 |
| Definition | A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. https://www.ncbi.nlm.nih.gov/pubmed/18065693, https://www.ncbi.nlm.nih.gov/pubmed/21454453, https://www.ncbi.nlm.nih.gov/pubmed/9834222 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Glanzmann thrombasthenia [EXACT] autosomal dominant thrombasthenia of Glanzmann and Naegeli [EXACT] |
| Parent Relationships |