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Summary Literature (0)
DOID:0081079 - ectodermal dysplasia and immunodeficiency 2

Disease Ontology 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.

Synonyms:

Xenbase Genes : nfkbia


MIM:
MIM:612132 - ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2; EDAID2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), ectodermal dysplasia and immune deficiency (is_a)