immunodeficiency, common variable, 6
Go to external page http://purl.obolibrary.org/obo/MONDO_0013286
Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: CD81 common variable immunodeficiency immunodeficiency, common variable, 6 common variable immunodeficiency caused by mutation in CD81 immunodeficiency, common variable, type 6
Term information
- OMIM:613496 (MONDO:equivalentTo)
- UMLS:C3150741 (OMIM:613496)
- GARD:15671 (OMIM:613496)
- DOID:0081149 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/613496
http://purl.obolibrary.org/obo/DOID_0081149
http://linkedlifedata.com/resource/umls/id/C3150741