Online Mendelian Inheritance in Man - IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616576 http://purl.bioontology.org/ontology/OMIM/616576
Preferred Name	IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY
Synonyms	CVID12 NFKB1 DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CVID12 NFKB1 DEFICIENCY
prefLabel	IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY
Gene Symbol	CVID12 NFKB1
Scope Statement	Caused by mutation in the nuclear factor kappa-B, subunit 1 gene (NFKB1, 164011.0001) [MOLECULAR BASIS] Variable age at onset (range childhood to adult) [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Incomplete penetrance (about 60%) [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Age-dependent penetrance [MISCELLANEOUS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU052270 http://purl.bioontology.org/ontology/OMIM/MTHU067436 http://purl.bioontology.org/ontology/OMIM/MTHU052271 http://purl.bioontology.org/ontology/OMIM/MTHU056567 http://purl.bioontology.org/ontology/OMIM/MTHU072673 http://purl.bioontology.org/ontology/OMIM/MTHU003527 http://purl.bioontology.org/ontology/OMIM/MTHU072679 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU072681 http://purl.bioontology.org/ontology/OMIM/MTHU046632 http://purl.bioontology.org/ontology/OMIM/MTHU072680 http://purl.bioontology.org/ontology/OMIM/MTHU018875 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU052783 http://purl.bioontology.org/ontology/OMIM/MTHU072671 http://purl.bioontology.org/ontology/OMIM/MTHU072675 http://purl.bioontology.org/ontology/OMIM/MTHU012245 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU072678 http://purl.bioontology.org/ontology/OMIM/MTHU046844 http://purl.bioontology.org/ontology/OMIM/MTHU007818 http://purl.bioontology.org/ontology/OMIM/MTHU036938 http://purl.bioontology.org/ontology/OMIM/MTHU072677 http://purl.bioontology.org/ontology/OMIM/MTHU006714 http://purl.bioontology.org/ontology/OMIM/MTHU072676 http://purl.bioontology.org/ontology/OMIM/MTHU000084 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU072674 http://purl.bioontology.org/ontology/OMIM/MTHU002414 http://purl.bioontology.org/ontology/OMIM/MTHU001688 http://purl.bioontology.org/ontology/OMIM/MTHU002630 http://purl.bioontology.org/ontology/OMIM/MTHU007821 http://purl.bioontology.org/ontology/OMIM/MTHU020588 http://purl.bioontology.org/ontology/OMIM/MTHU072672 http://purl.bioontology.org/ontology/OMIM/MTHU069752 http://purl.bioontology.org/ontology/OMIM/MTHU007447 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
tui	T047
Gene Locus	4q23-q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616576
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225277
OMIM Entry Type	3
OMIM MimType Value	pound

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