Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615593 http://purl.bioontology.org/ontology/OMIM/615593
Preferred Name	IMMUNODEFICIENCY 16
Synonyms	IMD16 OX40 DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD16 OX40 DEFICIENCY
prefLabel	IMMUNODEFICIENCY 16
Gene Symbol	IMD16 TXGP1L TNFRSF4 OX40 ACT35
Scope Statement	Juvenile onset [MISCELLANEOUS] Caused by mutation in the tumor necrosis factor receptor superfamily, member 4 gene (TNFRSF4, 600315.0001) [MOLECULAR BASIS] One patient has been reported (last curated June 2016) [MISCELLANEOUS] Kaposi sarcoma lesions may be disseminated [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU055253 http://purl.bioontology.org/ontology/OMIM/MTHU055252 http://purl.bioontology.org/ontology/OMIM/MTHU055251
tui	T047
Gene Locus	1p36
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615593
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3810053
OMIM Entry Type	3
OMIM MimType Value	pound

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