immunodeficiency 49
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.
MONDO:0003778
inborn error of immunity
is_a
MONDO:0031520
familial severe combined immunodeficiency
is_a
BCL11B primary immunodeficiency disease
exact
IMD49
exact
immunodeficiency 49; IMD49
exact
immunodeficiency type 49
exact
primary immunodeficiency disease caused by mutation in BCL11B
exact