OBO ID: DOID:0081154
Term Name: common variable immunodeficiency 12 Search Ontology:
Synonyms:
Definition: A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. https://pubmed.ncbi.nlm.nih.gov/32278790/
References:
Ontology: Human Disease   ( DOID:0081154 )
OTHER common variable immunodeficiency 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NFKB1 Immunodeficiency, common variable, 12 616576
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None