platelet-type bleeding disorder 20 (DOID:0111055)
Alliance: disease page
Synonyms: autosomal dominant thrombocytopenia with platelet secretion defect; BDPLT20
Alt IDs: OMIM:616913, ORDO:466806
Definition: A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.