{
    "disease_id": "DOID:0081149",
    "recommended_name": {
        "id": "DOID:0081149",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081149",
        "name": "common variable immunodeficiency 6",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p."
    },
    "synonyms": [
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "immunodeficiency, common variable, 6",
            "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene."
        },
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "CD81 common variable immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "common variable immunodeficiency caused by mutation in CD81",
            "description": ""
        },
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "immunodeficiency, common variable, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "immunodeficiency, common variable, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013286",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "name": "CVID6",
            "description": ""
        },
        {
            "id": "MIM:613496",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613496",
            "name": "Immunodeficiency, common variable, 6",
            "description": "Immunodeficiency, common variable, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081149"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081149",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081149",
            "categories": []
        },
        {
            "id": "MONDO:0013286",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013286",
            "categories": []
        },
        {
            "id": "MIM:613496",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613496",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35762-1",
            "uniprot_ac": "P35762",
            "uniprot_id": "CD81_MOUSE",
            "refseq_ac": "NP_598416",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD81 antigen",
                    "type": "recommended"
                },
                {
                    "name": "26 kDa cell surface protein TAPA-1",
                    "type": "synonym"
                },
                {
                    "name": "CD81 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Target of the antiproliferative antibody 1",
                    "type": "synonym"
                },
                {
                    "name": "target of the antiproliferative antibody 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd81",
                    "type": "recommended"
                },
                {
                    "name": "Cd81",
                    "type": "synonym"
                },
                {
                    "name": "Tapa-1",
                    "type": "synonym"
                },
                {
                    "name": "Tapa1",
                    "type": "synonym"
                },
                {
                    "name": "Tspan28",
                    "type": "synonym"
                }
            ],
            "record_id": "P35762-1",
            "evidence": [
                {
                    "id": "0081149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60033-1",
            "uniprot_ac": "P60033",
            "uniprot_id": "CD81_HUMAN",
            "refseq_ac": "NP_001284578",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CD81 antigen",
                    "type": "recommended"
                },
                {
                    "name": "26 kDa cell surface protein TAPA-1",
                    "type": "synonym"
                },
                {
                    "name": "CD81 antigen (target of antiproliferative antibody 1)",
                    "type": "synonym"
                },
                {
                    "name": "CD81 antigen isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Target of the antiproliferative antibody 1",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin-28",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-28",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-28",
                    "type": "synonym"
                },
                {
                    "name": "tspan-28",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CD81",
                    "type": "recommended"
                },
                {
                    "name": "CD81",
                    "type": "synonym"
                },
                {
                    "name": "CVID6",
                    "type": "synonym"
                },
                {
                    "name": "S5.7",
                    "type": "synonym"
                },
                {
                    "name": "TAPA1",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN28",
                    "type": "synonym"
                }
            ],
            "record_id": "P60033-1",
            "evidence": [
                {
                    "id": "613496",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613496"
                },
                {
                    "id": "0081149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62745-1",
            "uniprot_ac": "Q62745",
            "uniprot_id": "CD81_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": "CD81 antigen",
                    "type": "recommended"
                },
                {
                    "name": "26 kDa cell surface protein TAPA-1",
                    "type": "synonym"
                },
                {
                    "name": "Target of the antiproliferative antibody 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd81",
                    "type": "recommended"
                },
                {
                    "name": "Tapa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62745-1",
            "evidence": [
                {
                    "id": "0081149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KH03-1",
            "uniprot_ac": "A0A0B4KH03",
            "uniprot_id": "A0A0B4KH03_DROME",
            "refseq_ac": "NP_001262976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetraspanin",
                    "type": "recommended"
                },
                {
                    "name": "CG6120-PB",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin96F",
                    "type": "synonym"
                },
                {
                    "name": "Tsp96F-PB",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 96F, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp96F",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD19727",
                    "type": "synonym"
                },
                {
                    "name": "CG6120",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp96F",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6120",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6120",
                    "type": "synonym"
                },
                {
                    "name": "LD19727",
                    "type": "synonym"
                },
                {
                    "name": "Tsp96F",
                    "type": "synonym"
                },
                {
                    "name": "tsp96F",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KH03-1",
            "evidence": [
                {
                    "id": "0081149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081149"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FN4-1",
            "uniprot_ac": "Q96FN4",
            "uniprot_id": "CPNE2_HUMAN",
            "refseq_ac": "NP_689940",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Copine-2",
                    "type": "recommended"
                },
                {
                    "name": "Copine II",
                    "type": "synonym"
                },
                {
                    "name": "copine II",
                    "type": "synonym"
                },
                {
                    "name": "copine-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPNE2",
                    "type": "recommended"
                },
                {
                    "name": "COPN2",
                    "type": "synonym"
                },
                {
                    "name": "CPN2",
                    "type": "synonym"
                },
                {
                    "name": "CPNE2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FN4-1",
            "evidence": [
                {
                    "id": "0081149",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081149"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081149"
}