immunodeficiency, common variable, 10
Go to external page http://purl.obolibrary.org/obo/MONDO_0014260
Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: NFKB2 common variable immunodeficiency immunodeficiency, common variable, type 10 common variable immunodeficiency caused by mutation in NFKB2 immunodeficiency, common variable, 10
Term information
- OMIM:615577 (MONDO:equivalentTo)
- GARD:15990 (MONDO:GARD)
- DOID:0081152 (MONDO:equivalentTo)
- UMLS:C3809991 (MONDO:equivalentTo)
- MEDGEN:816321 (MONDO:equivalentTo)
gard_rare, otar, rare, nord_rare, clingen
https://omim.org/entry/615577
http://purl.obolibrary.org/obo/DOID_0081152
http://linkedlifedata.com/resource/umls/id/C3809991
http://identifiers.org/medgen/816321
Deficit in anterior pituitary function and variable immunodeficiency
immunodeficiency, common variable, with central adrenal insufficiency
CVID10