OBO ID: DOID:0081078 |
Term Name: | ectodermal dysplasia and immunodeficiency 1 | Search Ontology: | |
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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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Ontology: | Human Disease ( DOID:0081078 ) |
OTHER ectodermal dysplasia and immunodeficiency 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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