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Disease Ontology Browser
immunodeficiency 40 (DOID:0111951)
Alliance: disease page
Synonyms: DOCK2 deficiency; IMD40
Alt IDs: OMIM:616433, NCI:C176799, ORDO:447737, UMLS_CUI:C4225328
Definition: A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory