ectodermal dysplasia and immunodeficiency 2 (DOID:0081079)
Alliance: disease page
Alt IDs: OMIM:612132
Definition: An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.