ectodermal dysplasia and immunodeficiency 1 (DOID:0081078)
Alliance: disease page
Alt IDs: OMIM:300291, ORDO:69088
Definition: An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28.