immunodeficiency, common variable, 5
Go to external page http://purl.obolibrary.org/obo/MONDO_0013285
Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: immunodeficiency, common variable, 5 common variable immunodeficiency caused by mutation in MS4A1 MS4A1 common variable immunodeficiency immunodeficiency, common variable, type 5
Term information
- DOID:0081148 (MONDO:equivalentTo)
- GARD:15670 (OMIM:613495)
- UMLS:C3150740 (OMIM:613495)
- OMIM:613495 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/613495
http://purl.obolibrary.org/obo/DOID_0081148
http://linkedlifedata.com/resource/umls/id/C3150740