FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term ectodermal dysplasia and immunodeficiency 2 ID (Ontology) DOID:0081079 (Human Disease)
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.
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 ectodermal dysplasia and immunodeficiency 2       1
 for disease ribbon | ectodermal dysplasia and immunodeficiency 2       1
 model of | ectodermal dysplasia and immunodeficiency 2       1
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autosomal genetic disease
 |__autosomal dominant disease__________________
ectodermal dysplasia                            |
 |__ectodermal dysplasia and immune deficiency__|
primary immunodeficiency disease                |
 |__ectodermal dysplasia and immune deficiency__|
                                                ectodermal dysplasia and immunodeficiency 2  1 rec.
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Is a autosomal dominant disease
ectodermal dysplasia and immune deficiency
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MIM:612132