{
    "disease_id": "DOID:0081150",
    "recommended_name": {
        "id": "DOID:0081150",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081150",
        "name": "common variable immunodeficiency 7",
        "description": "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0013862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013862",
            "name": "immunodeficiency, common variable, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013862",
            "name": "immunodeficiency, common variable, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013862",
            "name": "immunodeficiency, common variable, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013862",
            "name": "CVID7",
            "description": ""
        },
        {
            "id": "MIM:614699",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614699",
            "name": "Immunodeficiency, common variable, 7",
            "description": "Immunodeficiency, common variable, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081150"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081150",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081150",
            "categories": []
        },
        {
            "id": "MONDO:0013862",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013862",
            "categories": []
        },
        {
            "id": "MIM:614699",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614699",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P19070-1",
            "uniprot_ac": "P19070",
            "uniprot_id": "CR2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "Complement C3d receptor",
                    "type": "synonym"
                },
                {
                    "name": "Cr2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cr2",
                    "type": "recommended"
                }
            ],
            "record_id": "P19070-1",
            "evidence": [
                {
                    "id": "0081150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20023-1",
            "uniprot_ac": "P20023",
            "uniprot_id": "CR2_HUMAN",
            "refseq_ac": "NP_001006659",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement receptor type 2",
                    "type": "recommended"
                },
                {
                    "name": "Complement C3d receptor",
                    "type": "synonym"
                },
                {
                    "name": "Cr2",
                    "type": "synonym"
                },
                {
                    "name": "EBV receptor",
                    "type": "synonym"
                },
                {
                    "name": "Epstein-Barr virus receptor",
                    "type": "synonym"
                },
                {
                    "name": "complement component (3d/Epstein Barr virus) receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "complement component 3d receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "complement receptor type 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement receptor type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CR2",
                    "type": "recommended"
                },
                {
                    "name": "C3DR",
                    "type": "synonym"
                },
                {
                    "name": "CD21",
                    "type": "synonym"
                },
                {
                    "name": "CR2",
                    "type": "synonym"
                },
                {
                    "name": "CR",
                    "type": "synonym"
                },
                {
                    "name": "CVID7",
                    "type": "synonym"
                },
                {
                    "name": "SLEB9",
                    "type": "synonym"
                }
            ],
            "record_id": "P20023-1",
            "evidence": [
                {
                    "id": "614699",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614699"
                },
                {
                    "id": "0081150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9F7-1",
            "uniprot_ac": "D3Z9F7",
            "uniprot_id": "D3Z9F7_RAT",
            "refseq_ac": "XP_008768069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component receptor 1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Complement regulatory protein Crry",
                    "type": "synonym"
                },
                {
                    "name": "complement receptor type 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cr2",
                    "type": "recommended"
                },
                {
                    "name": "Cd21",
                    "type": "synonym"
                },
                {
                    "name": "Cr2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9F7-1",
            "evidence": [
                {
                    "id": "0081150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70210-1",
            "uniprot_ac": "O70210",
            "uniprot_id": "CHAD_RAT",
            "refseq_ac": "NP_062037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chondroadherin",
                    "type": "recommended"
                },
                {
                    "name": "Cartilage leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "cartilage leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "chondroadherin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chad",
                    "type": "recommended"
                },
                {
                    "name": "Chad",
                    "type": "synonym"
                }
            ],
            "record_id": "O70210-1",
            "evidence": [
                {
                    "id": "0081150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081150"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZX0-1",
            "uniprot_ac": "B7YZX0",
            "uniprot_id": "B7YZX0_DROME",
            "refseq_ac": "NP_001137842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10186-PG",
                    "type": "synonym"
                },
                {
                    "name": "Hasp-PG",
                    "type": "synonym"
                },
                {
                    "name": "Hig-anchoring scaffold protein, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Hig-anchoring scaffold protein, isoform H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hasp",
                    "type": "recommended"
                },
                {
                    "name": "CG10186",
                    "type": "synonym"
                },
                {
                    "name": "CT28647",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10186",
                    "type": "synonym"
                },
                {
                    "name": "Hasp",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey189",
                    "type": "synonym"
                },
                {
                    "name": "hasp",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZX0-1",
            "evidence": [
                {
                    "id": "0081150",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081150"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081150"
}