Term Name: | ectodermal dysplasia and immunodeficiency 2 |
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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 ) |