{
    "disease_id": "DOID:0081152",
    "recommended_name": {
        "id": "DOID:0081152",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081152",
        "name": "common variable immunodeficiency 10",
        "description": "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "immunodeficiency, common variable, 10",
            "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene."
        },
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "NFKB2 common variable immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "common variable immunodeficiency caused by mutation in NFKB2",
            "description": ""
        },
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "immunodeficiency, common variable, 10",
            "description": ""
        },
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "immunodeficiency, common variable, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0014260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "name": "CVID10",
            "description": ""
        },
        {
            "id": "MIM:615577",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615577",
            "name": "Immunodeficiency, common variable, 10",
            "description": "Immunodeficiency, common variable, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081152"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081152",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081152",
            "categories": []
        },
        {
            "id": "MONDO:0014260",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014260",
            "categories": []
        },
        {
            "id": "MIM:615577",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615577",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WTK5-1",
            "uniprot_ac": "Q9WTK5",
            "uniprot_id": "NFKB2_MOUSE",
            "refseq_ac": "NP_001170840",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor NF-kappa-B p100 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF2",
                    "type": "synonym"
                },
                {
                    "name": "NF kappaB2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p100 subunit isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p100 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkb2",
                    "type": "recommended"
                },
                {
                    "name": "NF-kappaB2",
                    "type": "synonym"
                },
                {
                    "name": "Nfkb2",
                    "type": "synonym"
                },
                {
                    "name": "lyt",
                    "type": "synonym"
                },
                {
                    "name": "p49/p100",
                    "type": "synonym"
                },
                {
                    "name": "p49",
                    "type": "synonym"
                },
                {
                    "name": "p50B",
                    "type": "synonym"
                },
                {
                    "name": "p52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WTK5-1",
            "evidence": [
                {
                    "id": "0081152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00653-1",
            "uniprot_ac": "Q00653",
            "uniprot_id": "NFKB2_HUMAN",
            "refseq_ac": "NP_001070962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor NF-kappa-B p100 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF2",
                    "type": "synonym"
                },
                {
                    "name": "H2TF1",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte translocation chromosome 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "Lyt10",
                    "type": "synonym"
                },
                {
                    "name": "NFKB, p52/p100 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene Lyt-10",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte translocation chromosome 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor Kappa-B, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p100 subunit isoform a",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p100 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p52 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of Kappa light chain gene enhancer in B cells 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)",
                    "type": "synonym"
                },
                {
                    "name": "oncogene Lyt-10",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor NFKB2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFKB2",
                    "type": "recommended"
                },
                {
                    "name": "CVID10",
                    "type": "synonym"
                },
                {
                    "name": "H2TF1",
                    "type": "synonym"
                },
                {
                    "name": "LYT-10",
                    "type": "synonym"
                },
                {
                    "name": "LYT10",
                    "type": "synonym"
                },
                {
                    "name": "NF-kB2",
                    "type": "synonym"
                },
                {
                    "name": "NFKB2",
                    "type": "synonym"
                },
                {
                    "name": "p100",
                    "type": "synonym"
                },
                {
                    "name": "p49/p100",
                    "type": "synonym"
                },
                {
                    "name": "p52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00653-1",
            "evidence": [
                {
                    "id": "615577",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615577"
                },
                {
                    "id": "0081152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6G6F3-1",
            "uniprot_ac": "A0A8I6G6F3",
            "uniprot_id": "A0A8I6G6F3_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": "Nuclear factor NF-kappa-B p100 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF2",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkb2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6G6F3-1",
            "evidence": [
                {
                    "id": "0081152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94527-1",
            "uniprot_ac": "Q94527",
            "uniprot_id": "NFKB1_DROME",
            "refseq_ac": "NP_477094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear factor NF-kappa-B p110 subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG11992-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rel-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rel-p110",
                    "type": "synonym"
                },
                {
                    "name": "Rel-p49",
                    "type": "synonym"
                },
                {
                    "name": "Rel-p68",
                    "type": "synonym"
                },
                {
                    "name": "Relish protein",
                    "type": "synonym"
                },
                {
                    "name": "immune response deficient 4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear Factor-kappa-B p110",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p110 subunit",
                    "type": "synonym"
                },
                {
                    "name": "relish, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "relish",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rel",
                    "type": "recommended"
                },
                {
                    "name": "CG11992",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11992",
                    "type": "synonym"
                },
                {
                    "name": "NF-KB",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaBeta",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "NFkappaB",
                    "type": "synonym"
                },
                {
                    "name": "RELI",
                    "type": "synonym"
                },
                {
                    "name": "REL",
                    "type": "synonym"
                },
                {
                    "name": "Rel-p110",
                    "type": "synonym"
                },
                {
                    "name": "Rel/NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "Rel1",
                    "type": "synonym"
                },
                {
                    "name": "Rel49",
                    "type": "synonym"
                },
                {
                    "name": "RelA",
                    "type": "synonym"
                },
                {
                    "name": "Rel",
                    "type": "synonym"
                },
                {
                    "name": "ird4",
                    "type": "synonym"
                },
                {
                    "name": "ird",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo36",
                    "type": "synonym"
                },
                {
                    "name": "relish",
                    "type": "synonym"
                },
                {
                    "name": "rel",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94527-1",
            "evidence": [
                {
                    "id": "0081152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081152"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081152"
}