Disease ID | Source | Name | Description |
615193 | OMIM | Bleeding disorder, platelet-type 15 (BDPLT15) | An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. The disease is caused by variants affecting the gene represented in this entry. |