ectodermal dysplasia and immunodeficiency 1
Information
- Disease name
- ectodermal dysplasia and immunodeficiency 1
- Disease ID
- DOID:0081078
- Description
- "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28." [url:https\://pubmed.ncbi.nlm.nih.gov/31965418/]
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:300291
- Cross Reference ID (Disease Ontology)
- ORDO:69088