{
    "disease_id": "DOID:0081145",
    "recommended_name": {
        "id": "DOID:0081145",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081145",
        "name": "common variable immunodeficiency 2",
        "description": "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0009413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009413",
            "name": "immunodeficiency, common variable, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009413",
            "name": "immunodeficiency, common variable, 2",
            "description": ""
        },
        {
            "id": "MONDO:0009413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009413",
            "name": "immunodeficiency, common variable, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009413",
            "name": "CVID2",
            "description": ""
        },
        {
            "id": "MIM:240500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/240500",
            "name": "Immunodeficiency, common variable, 2",
            "description": "Immunodeficiency, common variable, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081145"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081145",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081145",
            "categories": []
        },
        {
            "id": "MONDO:0009413",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009413",
            "categories": []
        },
        {
            "id": "MIM:240500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/240500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ET35-1",
            "uniprot_ac": "Q9ET35",
            "uniprot_id": "TR13B_MOUSE",
            "refseq_ac": "NP_067324",
            "glycoprotein": "no",
            "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 13B",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane activator and calcium-modulating and cyclophilin ligand interactor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 13B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf13b",
                    "type": "recommended"
                },
                {
                    "name": "1200009E08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Taci",
                    "type": "synonym"
                },
                {
                    "name": "Tnfrsf13b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ET35-1",
            "evidence": [
                {
                    "id": "0081145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14836-1",
            "uniprot_ac": "O14836",
            "uniprot_id": "TR13B_HUMAN",
            "refseq_ac": "NP_036584",
            "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 13B",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane activator and CAML interactor",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor 13B",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor receptor superfamily member 13B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNFRSF13B",
                    "type": "recommended"
                },
                {
                    "name": "CD267",
                    "type": "synonym"
                },
                {
                    "name": "CVID2",
                    "type": "synonym"
                },
                {
                    "name": "CVID",
                    "type": "synonym"
                },
                {
                    "name": "IGAD2",
                    "type": "synonym"
                },
                {
                    "name": "RYZN",
                    "type": "synonym"
                },
                {
                    "name": "TACI",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF13B",
                    "type": "synonym"
                },
                {
                    "name": "TNFRSF14B",
                    "type": "synonym"
                }
            ],
            "record_id": "O14836-1",
            "evidence": [
                {
                    "id": "240500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/240500"
                },
                {
                    "id": "0081145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LM99-1",
            "uniprot_ac": "A0ABK0LM99",
            "uniprot_id": "A0ABK0LM99_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tumor necrosis factor receptor superfamily member 13B",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane activator and CAML interactor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnfrsf13b",
                    "type": "recommended"
                },
                {
                    "name": "ENSRNOG00000063438",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LM99-1",
            "evidence": [
                {
                    "id": "0081145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081145"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081145"
}