| Metadata | |
|---|---|
| ID | DOID:0081078 | 
| Name | ectodermal dysplasia and immunodeficiency 1 | 
| Definition | 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.  https://pubmed.ncbi.nlm.nih.gov/31965418/  | 
			    
                        
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	                             has material basis in some X-linked recessive inheritance has phenotype some Abnormality of immune system physiology  |