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Human Disease

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
Ontology
Human Disease   ( DOID:0081079 )
Relationships
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Genes Involved
Zebrafish Models