Term Name: ectodermal dysplasia and immunodeficiency 2
Synonyms:
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.
Ontology: Human Disease [DOID:0081079]   ( DOID:0081079 )

Relationships
is a type of: autosomal dominant disease ectodermal dysplasia and immune deficiency