Platelet-type bleeding disorder 20

Definition

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.

Also known as autosomal dominant thrombocytopenia with platelet secretion defect, BDPLT20, bleeding disorder, platelet-type, 20, inherited bleeding disorder, platelet-type caused by mutation in SLFN14, SLFN14 inherited bleeding disorder, platelet-type — per MONDO

Also identified as

• DOID 0111055 per MONDO
• OMIM 616913 per MONDO
• Orphanet 466806 per MONDO
• UMLS C4310797 per MONDO