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Metadata
ID DOID:0081079
PURL http://purl.obolibrary.org/obo/DOID_0081079 Copy
Name ectodermal dysplasia and immunodeficiency 2
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.
https://pubmed.ncbi.nlm.nih.gov/28597146/
Xrefs

MIM:612132

Parent Relationships

is_a ectodermal dysplasia and immune deficiency

is_a autosomal dominant disease

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