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Disease Ontology Browser
janus kinase-3 deficiency (DOID:0060008)
Alliance: disease page
Alt IDs: OMIM:600802
Definition: A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells.

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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory