OBO ID: DOID:0111960
Term Name: immunodeficiency 15A Search Ontology:
Synonyms:
  • IMD15A
Definition: A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in IKBKB on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/30337470/
References:
Ontology: Human Disease   (DOID:0111960)
OTHER immunodeficiency 15A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IKBKB Immunodeficiency 15A 618204
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None