Online Mendelian Inheritance in Man - IMMUNODEFICIENCY 132B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621096 http://purl.bioontology.org/ontology/OMIM/621096
Preferred Name	IMMUNODEFICIENCY 132B
Synonyms	IMD132B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD132B
prefLabel	IMMUNODEFICIENCY 132B
Gene Symbol	CD40BP TRAF3 CAP1 LAP1 CRAF1 IMD132A IMD132B See more See less
Scope Statement	Caused by mutation in the TNF receptor-associated factor 3 gene (TRAF3, 601896.0003) [MOLECULAR BASIS] Highly variable phenotype [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079618 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU079620 http://purl.bioontology.org/ontology/OMIM/MTHU037793 http://purl.bioontology.org/ontology/OMIM/MTHU062912 http://purl.bioontology.org/ontology/OMIM/MTHU043287 http://purl.bioontology.org/ontology/OMIM/MTHU004090 http://purl.bioontology.org/ontology/OMIM/MTHU044793 http://purl.bioontology.org/ontology/OMIM/MTHU051749 http://purl.bioontology.org/ontology/OMIM/MTHU018875 http://purl.bioontology.org/ontology/OMIM/MTHU012852 http://purl.bioontology.org/ontology/OMIM/MTHU079626 http://purl.bioontology.org/ontology/OMIM/MTHU052783 http://purl.bioontology.org/ontology/OMIM/MTHU079616 http://purl.bioontology.org/ontology/OMIM/MTHU030852 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU028125 http://purl.bioontology.org/ontology/OMIM/MTHU032385 http://purl.bioontology.org/ontology/OMIM/MTHU072032 http://purl.bioontology.org/ontology/OMIM/MTHU040126 http://purl.bioontology.org/ontology/OMIM/MTHU079615 http://purl.bioontology.org/ontology/OMIM/MTHU079621 http://purl.bioontology.org/ontology/OMIM/MTHU018114 http://purl.bioontology.org/ontology/OMIM/MTHU070737 http://purl.bioontology.org/ontology/OMIM/MTHU079622 http://purl.bioontology.org/ontology/OMIM/MTHU070181 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU079617 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU079625 http://purl.bioontology.org/ontology/OMIM/MTHU079623 http://purl.bioontology.org/ontology/OMIM/MTHU033967 http://purl.bioontology.org/ontology/OMIM/MTHU079613 http://purl.bioontology.org/ontology/OMIM/MTHU079624 http://purl.bioontology.org/ontology/OMIM/MTHU002630 http://purl.bioontology.org/ontology/OMIM/MTHU069795 http://purl.bioontology.org/ontology/OMIM/MTHU002419 http://purl.bioontology.org/ontology/OMIM/MTHU079614 http://purl.bioontology.org/ontology/OMIM/MTHU007821 http://purl.bioontology.org/ontology/OMIM/MTHU026086 http://purl.bioontology.org/ontology/OMIM/MTHU003979 http://purl.bioontology.org/ontology/OMIM/MTHU026085 http://purl.bioontology.org/ontology/OMIM/MTHU007447 http://purl.bioontology.org/ontology/OMIM/MTHU079619 http://purl.bioontology.org/ontology/OMIM/MTHU037263 http://purl.bioontology.org/ontology/OMIM/MTHU079612 See more See less
tui	T047
Gene Locus	14q32.32
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621096
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C6012695
OMIM Entry Type	3
OMIM MimType Value	pound

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