| Namespace | disease_ontology | Obsolete | false |
| description | 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 the CARD11 gene on chromosome 7p22.2. |
