Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617765 http://purl.bioontology.org/ontology/OMIM/617765
Preferred Name	IMMUNODEFICIENCY, COMMON VARIABLE, 14
Synonyms	CVID14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CVID14
prefLabel	IMMUNODEFICIENCY, COMMON VARIABLE, 14
Gene Symbol	CVID14 IRF2BP2
Scope Statement	Onset in early childhood [MISCELLANEOUS] One family has been reported (last curated November 2017) [MISCELLANEOUS] Can be managed with immunoglobulin (Ig) therapy [MISCELLANEOUS] Caused by mutation in the interferon regulatory factor 2-binding protein 2 gene (IRF2BP2, 615332.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU047431 http://purl.bioontology.org/ontology/OMIM/MTHU059884 http://purl.bioontology.org/ontology/OMIM/MTHU055601 http://purl.bioontology.org/ontology/OMIM/MTHU036411 http://purl.bioontology.org/ontology/OMIM/MTHU040530 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU059885 http://purl.bioontology.org/ontology/OMIM/MTHU043282 http://purl.bioontology.org/ontology/OMIM/MTHU059883 See more See less
tui	T047
Gene Locus	1q42.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617765
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4540380
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display