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

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/613495

http://purl.obolibrary.org/obo/DOID_0081148

http://linkedlifedata.com/resource/umls/id/C3150740

has related synonym

antibody deficiency due to CD20 defect

CVID5

id

MONDO:0013285

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013285

Term relations