Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619238 http://purl.bioontology.org/ontology/OMIM/619238
Preferred Name	IMMUNODEFICIENCY 79
Synonyms	IMD79 CD4 DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD79 CD4 DEFICIENCY
prefLabel	IMMUNODEFICIENCY 79
Gene Symbol	OKT4D IMD79 CD4
Scope Statement	Variable severity and phenotype [MISCELLANEOUS] Two unrelated adult women have been reported (last curated March 2021) [MISCELLANEOUS] Caused by mutation in the CD4 antigen gene (CD4, 186940.0002) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU056567 http://purl.bioontology.org/ontology/OMIM/MTHU072974 http://purl.bioontology.org/ontology/OMIM/MTHU072976 http://purl.bioontology.org/ontology/OMIM/MTHU072977 http://purl.bioontology.org/ontology/OMIM/MTHU057359 http://purl.bioontology.org/ontology/OMIM/MTHU072978 http://purl.bioontology.org/ontology/OMIM/MTHU072975 http://purl.bioontology.org/ontology/OMIM/MTHU033967 See more See less
tui	T047
Gene Locus	12p13.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619238
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5543220
OMIM Entry Type	3
OMIM MimType Value	pound

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