Search Ontology:
Human Disease
ectodermal dysplasia and immunodeficiency 2
- Term ID
- DOID:0081079
- Synonyms
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- 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 )
- is a type of
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Genes Involved
Zebrafish Models