immunodeficiency, common variable, 12
Go to external page http://purl.obolibrary.org/obo/MONDO_0014697
Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: NFKB1 common variable immunodeficiency immunodeficiency, common variable, type 12 common variable immunodeficiency caused by mutation in NFKB1 immunodeficiency, common variable, 12
Term information
- MEDGEN:906018 (MONDO:equivalentTo)
- UMLS:C4225277 (MONDO:equivalentTo)
- DOID:0081154 (MONDO:equivalentTo)
- OMIM:616576 (MONDO:equivalentTo)
- GARD:16141 (MONDO:GARD)
gard_rare, rare, nord_rare, clingen
http://linkedlifedata.com/resource/umls/id/C4225277
http://identifiers.org/medgen/906018
http://purl.obolibrary.org/obo/DOID_0081154
https://omim.org/entry/616576