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 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| NFKB1 | Immunodeficiency, common variable, 12 | common variable immunodeficiency 12 | 616576 |
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