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Disease Ontology Browser
immunodeficiency 11A (DOID:0111957)
Alliance: disease page
Synonyms: CARD11 deficiency; IMD11A; SCID due to CARD11 deficiency; severe combined immunodeficiency due to CARD11 deficiency
Alt IDs: OMIM:615206, ORDO:357237, UMLS_CUI:C3554686
Definition: 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.


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
06/23/2022
MGI 6.20
The Jackson Laboratory