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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

MIM:300291

ORDO:69088

Subsets

DO_rare_slim

Parent Relationships

is_a ectodermal dysplasia and immune deficiency

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

has phenotype some Abnormality of immune system physiology

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