ectodermal dysplasia and immunodeficiency 2

Term ID

DOID:0081079

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. https://pubmed.ncbi.nlm.nih.gov/28597146/

References

• OMIM:612132

Ontology

Human Disease   ( DOID:0081079 )