Term Name:	immunodeficiency 47
Synonyms:	CDG IIs, CDG2S, CDGIIs, congenital disorder of glycosylation type IIs, IMD47, immunodeficiency and hepatopathy with or without neurologic features
Definition:	A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28.
Ontology:	Human Disease [DOID:0112002]   ( DOID:0112002 )