"UMLS_CUI:C3554686"^^ . "disease_ontology"^^ . _:vb50945813 . "OMIM:615206"^^ . "IMD11A"^^ . _:vb50945813 . "CARD11 deficiency"^^ . . _:vb50945813 . . "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2."^^ . . _:vb50945813 . "SCID due to CARD11 deficiency"^^ . _:vb50945813 . "ORDO:357237"^^ . "immunodeficiency 11A"^^ . "severe combined immunodeficiency due to CARD11 deficiency"^^ . . "DOID:0111957"^^ .