MONDO_0010504 (immunodeficiency 47) is any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. Also known as: ATP6AP1 primary immunodeficiency disease, IMD47, immunodeficiency 47, X-linked recessive, immunodeficiency 47; IMD47, immunodeficiency type 47, primary immunodeficiency disease caused by mutation in ATP6AP1.