ectodermal dysplasia and immunodeficiency 2
Information
- Disease name
- ectodermal dysplasia and immunodeficiency 2
- Disease ID
- DOID:0081079
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/28597146/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0081077
- Cross Reference ID (Disease Ontology)
- MIM:612132