Search Ontology:
Human Disease

ectodermal dysplasia and immunodeficiency 1

Term ID
DOID:0081078
Synonyms
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/
References
Ontology
Human Disease   ( DOID:0081078 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models