Term Name: platelet-type bleeding disorder 20
Synonyms: autosomal dominant thrombocytopenia with platelet secretion defect, BDPLT20
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.
Ontology: Human Disease [DOID:0111055]   ( DOID:0111055 )

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