{
    "disease_id": "DOID:0060022",
    "recommended_name": {
        "id": "DOID:0060022",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0060022",
            "name": "HIGMX-1",
            "description": ""
        },
        {
            "id": "DOID:0060022",
            "resource": "Disease Ontology",
            "url": "https://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": "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_list": [
        "DOID:0060022"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060022",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060022",
            "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": "P27548-1",
            "uniprot_ac": "P27548",
            "uniprot_id": "CD40L_MOUSE",
            "refseq_ac": "NP_035746",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD40 ligand",
                    "type": "recommended"
                },
                {
                    "name": "CD40 ligand",
                    "type": "synonym"
                },
                {
                    "name": "CD40-L",
                    "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 8b",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor ligand superfamily member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd40lg",
                    "type": "recommended"
                },
                {
                    "name": "CD154",
                    "type": "synonym"
                },
                {
                    "name": "CD40-L",
                    "type": "synonym"
                },
                {
                    "name": "Cd40lg",
                    "type": "synonym"
                },
                {
                    "name": "Cd40l",
                    "type": "synonym"
                },
                {
                    "name": "HIGM1",
                    "type": "synonym"
                },
                {
                    "name": "IGM",
                    "type": "synonym"
                },
                {
                    "name": "IMD3",
                    "type": "synonym"
                },
                {
                    "name": "Ly-62",
                    "type": "synonym"
                },
                {
                    "name": "Ly62",
                    "type": "synonym"
                },
                {
                    "name": "T-BAM",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf5",
                    "type": "synonym"
                },
                {
                    "name": "Tnlg8b",
                    "type": "synonym"
                },
                {
                    "name": "gp39",
                    "type": "synonym"
                }
            ],
            "record_id": "P27548-1",
            "evidence": [
                {
                    "id": "0060022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060022"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0060022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060022"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2V2-1",
            "uniprot_ac": "Q9Z2V2",
            "uniprot_id": "CD40L_RAT",
            "refseq_ac": "NP_445805",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD40 ligand",
                    "type": "recommended"
                },
                {
                    "name": "CD40 ligand CD154",
                    "type": "synonym"
                },
                {
                    "name": "CD40 ligand",
                    "type": "synonym"
                },
                {
                    "name": "CD40-L",
                    "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": "Cd40lg",
                    "type": "synonym"
                },
                {
                    "name": "Cd40l",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2V2-1",
            "evidence": [
                {
                    "id": "0060022",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060022"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060022"
}