Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616873 http://purl.bioontology.org/ontology/OMIM/616873
Preferred Name	IMMUNODEFICIENCY, COMMON VARIABLE, 13
Synonyms	CVID13
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CVID13
prefLabel	IMMUNODEFICIENCY, COMMON VARIABLE, 13
Gene Symbol	ZNFN1A1 IKZF1 LYF1 IK1 CVID13
Scope Statement	Caused by mutation in the ikaros family zinc finger 1 gene (IKZF1, 603023.0001) [MOLECULAR BASIS] Variable age at onset (range infancy to adulthood) [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Some patients may be clinically asymptomatic [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU070184 http://purl.bioontology.org/ontology/OMIM/MTHU070183 http://purl.bioontology.org/ontology/OMIM/MTHU053194 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU023338 http://purl.bioontology.org/ontology/OMIM/MTHU053193 http://purl.bioontology.org/ontology/OMIM/MTHU053196 http://purl.bioontology.org/ontology/OMIM/MTHU070182 http://purl.bioontology.org/ontology/OMIM/MTHU053195 http://purl.bioontology.org/ontology/OMIM/MTHU053200 http://purl.bioontology.org/ontology/OMIM/MTHU036683 See more See less
tui	T047
Gene Locus	7p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616873
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4225173
OMIM Entry Type	3
OMIM MimType Value	pound

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