Term Name: platelet-type bleeding disorder 15
Synonyms: autosomal dominant macrothrombocytopenia ACTN1-related, BDPLT15
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.
Ontology: Human Disease [DOID:0111053]   ( DOID:0111053 )

Relationships
is a type of: autosomal dominant disease blood platelet disease