{
    "disease_id": "DOID:0060022",
    "recommended_name": {
        "id": "DOID:0060022",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060022",
        "name": "CD40 ligand deficiency",
        "description": "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE."
    },
    "synonyms": [
        {
            "id": "DOID:0060022",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060022",
            "name": "HIGMX-1",
            "description": ""
        },
        {
            "id": "DOID:0060022",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060022",
            "name": "X-linked hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "X-linked hyper-IgM syndrome",
            "description": "Hyper IgM Syndrome Type 1 (HIGM-1) is the X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele."
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "XHIM",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "HIGM1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "XHIGM",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "immunodeficiency with hyper IgM type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper IgM immunodeficiency, x-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM immunodeficiency, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "immunodeficiency 3",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "immunodeficiency with hyper-IgM, type 1; HIGM1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "IHIS",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "CD40 ligand deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "immunodeficiency with hyper-IgM, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyperimmunoglobulin M syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "X-linked hyper IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome due to CD40L deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper IgM syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome due to CD40 ligand deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "HIGM",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "X-linked hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper IgM syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "HIGMX-1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome",
            "description": ""
        },
        {
            "id": "MIM:308230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308230",
            "name": "Immunodeficiency with hyper-IgM, type 1",
            "description": "Immunodeficiency with hyper-IgM, type 1"
        }
    ]
}