{
    "disease_id": "DOID:0060759",
    "recommended_name": {
        "id": "DOID:0060759",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060759",
        "name": "immunodeficiency with hyper IgM type 5",
        "description": "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "HIGM5",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome 5",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome due to UNG deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060759",
            "name": "hyper-IgM syndrome due to uracil N-glycosylase",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome type 5",
            "description": "Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene."
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "HIGM5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "UNG hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome caused by mutation in UNG",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome due to UNG deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome due to uracil N-glycosylase",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper-IgM syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "immunodeficiency with hyper IgM, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "hyper IgM syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0011971",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011971",
            "name": "immunodeficiency with hyper-IgM, type 5",
            "description": ""
        },
        {
            "id": "MIM:608106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608106",
            "name": "Immunodeficiency with hyper-IgM 5",
            "description": "Immunodeficiency with hyper-IgM 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060759"
    ],
    "unlinked_id_list": []
}