{
    "disease_id": "DOID:0080544",
    "recommended_name": {
        "id": "DOID:0080544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080544",
        "name": "hyper IgM syndrome",
        "description": "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM."
    },
    "synonyms": [
        {
            "id": "DOID:0080544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080544",
            "name": "immunodeficiency with hyper-IgM",
            "description": ""
        },
        {
            "id": "DOID:0080544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080544",
            "name": "hyperimmunoglobulin M syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080544",
            "name": "HIGM",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "hyper-IgM syndrome type 1",
            "description": "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": "HIGM1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "Hyper IgM Syndromes",
            "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": "XHIGM",
            "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": "hyper-IgM syndrome due to CD40L deficiency",
            "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": "hyper-IgM syndrome, X-linked",
            "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": "immunodeficiency, X-linked, with hyper-IgM, X-linked recessive",
            "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": "IHIS",
            "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": "XHIM",
            "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 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": "immunodeficiency with hyper IgM type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010626",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "name": "immunodeficiency with hyper-IgM, type 1",
            "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"
        }
    ],
    "children": [
        {
            "id": "DOID:0060023",
            "label": "immunodeficiency with hyper IgM type 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060758",
            "label": "immunodeficiency with hyper-IgM type 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060759",
            "label": "immunodeficiency with hyper IgM type 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060759",
        "DOID:0060758",
        "DOID:0060023",
        "DOID:0080544"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080544",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080544",
            "categories": []
        },
        {
            "id": "MONDO:0010626",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010626",
            "categories": []
        },
        {
            "id": "MIM:308230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/308230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P29965-1",
            "uniprot_ac": "P29965",
            "uniprot_id": "CD40L_HUMAN",
            "refseq_ac": "NP_000065",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD40 ligand",
                    "type": "recommended"
                },
                {
                    "name": "CD40 antigen ligand",
                    "type": "synonym"
                },
                {
                    "name": "CD40 ligand",
                    "type": "synonym"
                },
                {
                    "name": "CD40-L",
                    "type": "synonym"
                },
                {
                    "name": "T-B cell-activating molecule",
                    "type": "synonym"
                },
                {
                    "name": "T-cell antigen Gp39",
                    "type": "synonym"
                },
                {
                    "name": "TNF-related activation protein",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor ligand superfamily member 5",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor (ligand) superfamily member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD40LG",
                    "type": "recommended"
                },
                {
                    "name": "CD154",
                    "type": "synonym"
                },
                {
                    "name": "CD40LG",
                    "type": "synonym"
                },
                {
                    "name": "CD40L",
                    "type": "synonym"
                },
                {
                    "name": "HIGM1",
                    "type": "synonym"
                },
                {
                    "name": "IGM",
                    "type": "synonym"
                },
                {
                    "name": "IMD3",
                    "type": "synonym"
                },
                {
                    "name": "T-BAM",
                    "type": "synonym"
                },
                {
                    "name": "TNFSF5",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                },
                {
                    "name": "gp39",
                    "type": "synonym"
                },
                {
                    "name": "hCD40L",
                    "type": "synonym"
                }
            ],
            "record_id": "P29965-1",
            "evidence": [
                {
                    "id": "308230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/308230"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080544"
}