Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616433 http://purl.bioontology.org/ontology/OMIM/616433
Preferred Name	IMMUNODEFICIENCY 40
Synonyms	IMD40
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD40
prefLabel	IMMUNODEFICIENCY 40
Gene Symbol	IMD40 DOCK2
Scope Statement	Onset at birth [MISCELLANEOUS] Death in childhood occurs without bone marrow transplantation [MISCELLANEOUS] Caused by mutation in the dedicator of cytokinesis 2 gene (DOCK2, 603122.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU043287 http://purl.bioontology.org/ontology/OMIM/MTHU051750 http://purl.bioontology.org/ontology/OMIM/MTHU051749 http://purl.bioontology.org/ontology/OMIM/MTHU051754 http://purl.bioontology.org/ontology/OMIM/MTHU051748 http://purl.bioontology.org/ontology/OMIM/MTHU070003 http://purl.bioontology.org/ontology/OMIM/MTHU070002 http://purl.bioontology.org/ontology/OMIM/MTHU007447 See more See less
tui	T047
Gene Locus	5q35.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616433
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225328
OMIM Entry Type	3
OMIM MimType Value	pound

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