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Metadata
ID	DOID:0111988
Name	immunodeficiency 12
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. https://pubmed.ncbi.nlm.nih.gov/23727036/, https://pubmed.ncbi.nlm.nih.gov/24332264/
Xrefs	OMIM:615468 ORDO:397964
Subsets	DO_rare_slim
Synonyms	combined immunodeficiency due to MALT1 deficiency [EXACT] IMD12 [EXACT]
Parent Relationships	is_a combined immunodeficiency is_a autosomal recessive disease