platelet-type bleeding disorder 20

Term ID

DOID:0111055

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. (2)

References

• OMIM:616913
• ORDO:466806

Ontology

Human Disease   ( DOID:0111055 )