OBO ID: DOID:0081078
Term Name: ectodermal dysplasia and immunodeficiency 1 Search Ontology:
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 ectodermal dysplasia and immunodeficiency 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IKBKG Ectodermal dysplasia and immunodeficiency 1 300291
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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