{
    "disease_id": "DOID:0081148",
    "recommended_name": {
        "id": "DOID:0081148",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081148",
        "name": "common variable immunodeficiency 5",
        "description": "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "immunodeficiency, common variable, 5",
            "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene."
        },
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "MS4A1 common variable immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "common variable immunodeficiency caused by mutation in MS4A1",
            "description": ""
        },
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "immunodeficiency, common variable, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "immunodeficiency, common variable, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013285",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "name": "CVID5",
            "description": ""
        },
        {
            "id": "MIM:613495",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613495",
            "name": "Immunodeficiency, common variable, 5",
            "description": "Immunodeficiency, common variable, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081148"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081148",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081148",
            "categories": []
        },
        {
            "id": "MONDO:0013285",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013285",
            "categories": []
        },
        {
            "id": "MIM:613495",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613495",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P19437-1",
            "uniprot_ac": "P19437",
            "uniprot_id": "CD20_MOUSE",
            "refseq_ac": "NP_031667",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-lymphocyte antigen CD20",
                    "type": "recommended"
                },
                {
                    "name": "B-cell differentiation antigen Ly-44",
                    "type": "synonym"
                },
                {
                    "name": "B-lymphocyte antigen CD20",
                    "type": "synonym"
                },
                {
                    "name": "CD20 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte antigen 44",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-spanning 4-domains subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 44",
                    "type": "synonym"
                },
                {
                    "name": "membrane-spanning 4-domains, subfamily A, member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ms4a1",
                    "type": "recommended"
                },
                {
                    "name": "Cd20",
                    "type": "synonym"
                },
                {
                    "name": "Ly-44",
                    "type": "synonym"
                },
                {
                    "name": "Ms4a1",
                    "type": "synonym"
                },
                {
                    "name": "Ms4a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P19437-1",
            "evidence": [
                {
                    "id": "0081148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11836-1",
            "uniprot_ac": "P11836",
            "uniprot_id": "CD20_HUMAN",
            "refseq_ac": "NP_068769",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-lymphocyte antigen CD20",
                    "type": "recommended"
                },
                {
                    "name": "B-lymphocyte antigen CD20",
                    "type": "synonym"
                },
                {
                    "name": "B-lymphocyte cell-surface antigen B1",
                    "type": "synonym"
                },
                {
                    "name": "B-lymphocyte surface antigen B1",
                    "type": "synonym"
                },
                {
                    "name": "Bp35",
                    "type": "synonym"
                },
                {
                    "name": "CD20 antigen",
                    "type": "synonym"
                },
                {
                    "name": "CD20 receptor",
                    "type": "synonym"
                },
                {
                    "name": "Leukocyte surface antigen Leu-16",
                    "type": "synonym"
                },
                {
                    "name": "Membrane-spanning 4-domains subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "leukocyte surface antigen Leu-16",
                    "type": "synonym"
                },
                {
                    "name": "membrane-spanning 4-domains, subfamily A, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MS4A1",
                    "type": "recommended"
                },
                {
                    "name": "B1",
                    "type": "synonym"
                },
                {
                    "name": "Bp35",
                    "type": "synonym"
                },
                {
                    "name": "CD20",
                    "type": "synonym"
                },
                {
                    "name": "CVID5",
                    "type": "synonym"
                },
                {
                    "name": "FMC7",
                    "type": "synonym"
                },
                {
                    "name": "LEU-16",
                    "type": "synonym"
                },
                {
                    "name": "MS4A1",
                    "type": "synonym"
                },
                {
                    "name": "S7",
                    "type": "synonym"
                }
            ],
            "record_id": "P11836-1",
            "evidence": [
                {
                    "id": "613495",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613495"
                },
                {
                    "id": "0081148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081148"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4Y3-1",
            "uniprot_ac": "D4A4Y3",
            "uniprot_id": "D4A4Y3_RAT",
            "refseq_ac": "NP_001386381",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "B-lymphocyte antigen CD20",
                    "type": "synonym"
                },
                {
                    "name": "Membrane spanning 4-domains A1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-spanning 4-domains, subfamily A, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ms4a1",
                    "type": "recommended"
                },
                {
                    "name": "Cd20",
                    "type": "synonym"
                },
                {
                    "name": "Ms4a1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A4Y3-1",
            "evidence": [
                {
                    "id": "0081148",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081148"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081148"
}