Search Ontology:
Human Disease

common variable immunodeficiency 12

Term ID
DOID:0081154
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models