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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 MALT1 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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last database update
10/05/2021
MGI 6.17
The Jackson Laboratory