{
    "disease_id": "DOID:0081147",
    "recommended_name": {
        "id": "DOID:0081147",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081147",
        "name": "common variable immunodeficiency 4",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013284",
            "name": "immunodeficiency, common variable, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013284",
            "name": "immunodeficiency, common variable, 4",
            "description": ""
        },
        {
            "id": "MONDO:0013284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013284",
            "name": "immunodeficiency, common variable, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013284",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013284",
            "name": "CVID4",
            "description": ""
        },
        {
            "id": "MIM:613494",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613494",
            "name": "Immunodeficiency, common variable, 4",
            "description": "Immunodeficiency, common variable, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081147"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081147",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081147",
            "categories": []
        },
        {
            "id": "MONDO:0013284",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013284",
            "categories": []
        },
        {
            "id": "MIM:613494",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613494",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D8D0-1",
            "uniprot_ac": "Q9D8D0",
            "uniprot_id": "TR13C_MOUSE",
            "refseq_ac": "NP_082351",
            "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 13C",
                    "type": "recommended"
                },
                {
                    "name": "B-cell maturation defect 1",
                    "type": "synonym"
                },
                {
                    "name": "B-cell maturation defect",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-activating factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "BAFF receptor",
                    "type": "synonym"
                },
                {
                    "name": "BAFF-R",
                    "type": "synonym"
                },
                {
                    "name": "BLyS receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "b cell-activating factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 13C isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf13c",
                    "type": "recommended"
                },
                {
                    "name": "2010006P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "BAFF-R",
                    "type": "synonym"
                },
                {
                    "name": "Baffr",
                    "type": "synonym"
                },
                {
                    "name": "Bcmd-1",
                    "type": "synonym"
                },
                {
                    "name": "Bcmd1",
                    "type": "synonym"
                },
                {
                    "name": "Bcmd",
                    "type": "synonym"
                },
                {
                    "name": "Br3",
                    "type": "synonym"
                },
                {
                    "name": "Lvis22",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf13c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D8D0-1",
            "evidence": [
                {
                    "id": "0081147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96RJ3-1",
            "uniprot_ac": "Q96RJ3",
            "uniprot_id": "TR13C_HUMAN",
            "refseq_ac": "NP_443177",
            "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 13C",
                    "type": "recommended"
                },
                {
                    "name": "B cell-activating factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "B-cell-activating factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "BAFF receptor",
                    "type": "synonym"
                },
                {
                    "name": "BAFF-R",
                    "type": "synonym"
                },
                {
                    "name": "BLyS receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 13C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF13C",
                    "type": "recommended"
                },
                {
                    "name": "BAFF-R",
                    "type": "synonym"
                },
                {
                    "name": "BAFFR",
                    "type": "synonym"
                },
                {
                    "name": "BR3",
                    "type": "synonym"
                },
                {
                    "name": "BROMIX",
                    "type": "synonym"
                },
                {
                    "name": "CD268",
                    "type": "synonym"
                },
                {
                    "name": "CVID4",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF13C",
                    "type": "synonym"
                },
                {
                    "name": "prolixin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96RJ3-1",
            "evidence": [
                {
                    "id": "613494",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613494"
                },
                {
                    "id": "0081147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A281-1",
            "uniprot_ac": "D4A281",
            "uniprot_id": "D4A281_RAT",
            "refseq_ac": "NP_001418900",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TNF receptor superfamily member 13C",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily, member 13c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf13c",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560810",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf13c",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A281-1",
            "evidence": [
                {
                    "id": "0081147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081147"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081147"
}