Online Mendelian Inheritance in Man - IMMUNODEFICIENCY 15B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615592 http://purl.bioontology.org/ontology/OMIM/615592
Preferred Name	IMMUNODEFICIENCY 15B
Synonyms	IMD15B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD15B
prefLabel	IMMUNODEFICIENCY 15B
Gene Symbol	IMD15A IMD15B NFKBIKB IKBKB
Scope Statement	Onset in infancy [MISCELLANEOUS] Four patients of Canadian Cree origin and 1 patient of Turkish origin have been reported (last curated November 2014) [MISCELLANEOUS] Early death without bone marrow transplantation [MISCELLANEOUS] Caused by mutation in the inhibitor of nuclear factor kappa-B kinase, subunit beta gene (IKBKB, 603258.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012134 http://purl.bioontology.org/ontology/OMIM/MTHU044736 http://purl.bioontology.org/ontology/OMIM/MTHU008328 http://purl.bioontology.org/ontology/OMIM/MTHU044734 http://purl.bioontology.org/ontology/OMIM/MTHU044738 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU008079 http://purl.bioontology.org/ontology/OMIM/MTHU042170 http://purl.bioontology.org/ontology/OMIM/MTHU044735 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU044737 http://purl.bioontology.org/ontology/OMIM/MTHU043282 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU044733 See more See less
tui	T047
Gene Locus	8p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615592
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4747743
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display