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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:
Echinobase Genes
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| MIM:612132 - ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)