Platelet-type bleeding disorder 19

Definition

Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.

Also known as BDPLT19, isolated hereditary giant platelet disorder caused by mutation in PRKACG, PRKACG isolated hereditary giant platelet disorder, severe autosomal recessive macrothrombocytopenia — per MONDO

Also identified as

• DOID 0111048 per MONDO
• OMIM 616176 per MONDO
• Orphanet 438207 per MONDO
• UMLS C4015405 per MONDO