immunodeficiency 47
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
MONDO:0003778
inborn error of immunity
is_a
MONDO:0003847
hereditary disease
is_a
ATP6AP1 primary immunodeficiency disease
exact
IMD47
exact
immunodeficiency 47
exact
immunodeficiency 47, X-linked recessive
exact
immunodeficiency 47; IMD47
exact
immunodeficiency type 47
exact
primary immunodeficiency disease caused by mutation in ATP6AP1
exact
SPCC306.06c