{
    "disease_id": "DOID:0060023",
    "recommended_name": {
        "id": "DOID:0060023",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060023",
        "name": "immunodeficiency with hyper IgM type 3",
        "description": "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation."
    },
    "synonyms": [
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060023",
            "name": "CD40 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060023",
            "name": "hyper-IgM syndrome due to CD40 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060023",
            "name": "type 3 hyper-IgM immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "hyper-IgM syndrome type 3",
            "description": "a form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells."
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "type 3 hyper-IgM immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "hyper-IgM syndrome due to CD40 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "CD40 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "immunodeficiency with hyper IgM type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "immunodeficiency with hyper-IgM, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "CD40 hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "immunodeficiency with hyper-IgM, type 3; HIGM3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "hyper-IgM syndrome caused by mutation in CD40",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "hyper-IgM syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "HIGM3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "immunodeficiency with hyper-IgM type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011735",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "name": "hyper IgM syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:606843",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606843",
            "name": "Immunodeficiency with hyper-IgM 3",
            "description": "Immunodeficiency with hyper-IgM 3"
        }
    ]
}