{
    "disease_id": "DOID:0060758",
    "recommended_name": {
        "id": "DOID:0060758",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060758",
        "name": "immunodeficiency with hyper-IgM type 2",
        "description": "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "AID deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "HIGM2",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060758",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060758",
            "name": "hyper-IgM syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome type 2",
            "description": "A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers."
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "AICDA hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "Activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "HIGM2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "activation-induced cytidine deaminase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "aid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome caused by mutation in AICDA",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper-IgM syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "hyper IgM syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "immunodeficiency with hyper IgM type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011528",
            "name": "immunodeficiency with hyper-IgM, type 2",
            "description": ""
        },
        {
            "id": "MIM:605258",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605258",
            "name": "Immunodeficiency with hyper-IgM 2",
            "description": "Immunodeficiency with hyper-IgM 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060758"
    ],
    "unlinked_id_list": []
}