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Disease Ontology Browser
immunodeficiency 12 (DOID:0111988)
Alliance: disease page
Synonyms: combined immunodeficiency due to MALT1 deficiency; IMD12
Alt IDs: OMIM:615468, ORDO:397964
Definition: A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.

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