{
    "disease_id": "DOID:0111957",
    "recommended_name": {
        "id": "DOID:0111957",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111957",
        "name": "immunodeficiency 11A",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111957",
            "name": "severe combined immunodeficiency due to CARD11 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111957",
            "name": "CARD11 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111957",
            "name": "IMD11A",
            "description": ""
        },
        {
            "id": "DOID:0111957",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111957",
            "name": "SCID due to CARD11 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "severe combined immunodeficiency due to CARD11 deficiency",
            "description": "Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections."
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "SCID due to CARD11 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency 11A",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency type 11",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "CARD11 immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "IMD11",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "IMD11A",
            "description": ""
        },
        {
            "id": "MONDO:0014081",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014081",
            "name": "immunodeficiency 11",
            "description": ""
        },
        {
            "id": "MIM:615206",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615206",
            "name": "Immunodeficiency 11 A",
            "description": "Immunodeficiency 11 A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111957"
    ],
    "unlinked_id_list": []
}