Term Name: | ectodermal dysplasia and immunodeficiency 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0081078] ( DOID:0081078 ) |