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/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance has phenotype some Abnormality of immune system physiology |