platelet-type bleeding disorder 15 (DOID:0111053)
Alliance: disease page
Synonyms: autosomal dominant macrothrombocytopenia ACTN1-related; BDPLT15
Alt IDs: OMIM:615193
Definition: A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.