{
    "disease_id": "DOID:0060023",
    "recommended_name": {
        "id": "DOID:0060023",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0060023",
            "name": "CD40 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060023",
            "name": "hyper-IgM syndrome due to CD40 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060023",
            "name": "type 3 hyper-IgM immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0060023",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060023",
            "name": "HIGM3",
            "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": "CD40 hyper-IgM syndrome",
            "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": "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 due to 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": "hyper IgM syndrome 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": "immunodeficiency with hyper-IgM, type 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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060023"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060023",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060023",
            "categories": []
        },
        {
            "id": "MONDO:0011735",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011735",
            "categories": []
        },
        {
            "id": "MIM:606843",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606843",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27512-1",
            "uniprot_ac": "P27512",
            "uniprot_id": "TNR5_MOUSE",
            "refseq_ac": "NP_035741",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 5",
                    "type": "recommended"
                },
                {
                    "name": "B-cell surface antigen CD40",
                    "type": "synonym"
                },
                {
                    "name": "Bp50",
                    "type": "synonym"
                },
                {
                    "name": "CD40L receptor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell differentiation antigen",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd40",
                    "type": "recommended"
                },
                {
                    "name": "Bp50",
                    "type": "synonym"
                },
                {
                    "name": "Cd40",
                    "type": "synonym"
                },
                {
                    "name": "GP39",
                    "type": "synonym"
                },
                {
                    "name": "HIGM1",
                    "type": "synonym"
                },
                {
                    "name": "IGM",
                    "type": "synonym"
                },
                {
                    "name": "IMD3",
                    "type": "synonym"
                },
                {
                    "name": "T-BAM",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf5",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                }
            ],
            "record_id": "P27512-1",
            "evidence": [
                {
                    "id": "0060023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060023"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25942-1",
            "uniprot_ac": "P25942",
            "uniprot_id": "TNR5_HUMAN",
            "refseq_ac": "NP_001241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 5",
                    "type": "recommended"
                },
                {
                    "name": "B cell surface antigen CD40",
                    "type": "synonym"
                },
                {
                    "name": "B cell-associated molecule",
                    "type": "synonym"
                },
                {
                    "name": "B-cell surface antigen CD40",
                    "type": "synonym"
                },
                {
                    "name": "Bp50",
                    "type": "synonym"
                },
                {
                    "name": "CD40 molecule, TNF receptor superfamily member 5",
                    "type": "synonym"
                },
                {
                    "name": "CD40L receptor",
                    "type": "synonym"
                },
                {
                    "name": "CDw40",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 5 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD40",
                    "type": "recommended"
                },
                {
                    "name": "Bp50",
                    "type": "synonym"
                },
                {
                    "name": "CD40",
                    "type": "synonym"
                },
                {
                    "name": "CDW40",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF5",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                }
            ],
            "record_id": "P25942-1",
            "evidence": [
                {
                    "id": "606843",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606843"
                },
                {
                    "id": "0060023",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060023"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060023"
}