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Summary Literature (0)
DOID:0111988 - immunodeficiency 12

Disease Ontology 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.

Synonyms: combined immunodeficiency due to MALT1 deficiency, IMD12

Xenbase Genes : malt1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), combined immunodeficiency (is_a)