{
    "disease_id": "DOID:0081154",
    "recommended_name": {
        "id": "DOID:0081154",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081154",
        "name": "common variable immunodeficiency 12",
        "description": "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "immunodeficiency, common variable, 12",
            "description": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene."
        },
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "NFKB1 common variable immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "common variable immunodeficiency caused by mutation in NFKB1",
            "description": ""
        },
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "immunodeficiency, common variable, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "immunodeficiency, common variable, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014697",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "name": "CVID12",
            "description": ""
        },
        {
            "id": "MIM:616576",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616576",
            "name": "Immunodeficiency, common variable, 12, with autoimmunity",
            "description": "Immunodeficiency, common variable, 12, with autoimmunity"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081154"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081154",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081154",
            "categories": []
        },
        {
            "id": "MONDO:0014697",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014697",
            "categories": []
        },
        {
            "id": "MIM:616576",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616576",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P25799-1",
            "uniprot_ac": "P25799",
            "uniprot_id": "NFKB1_MOUSE",
            "refseq_ac": "NP_032715",
            "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 p105 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF1",
                    "type": "synonym"
                },
                {
                    "name": "EBP-1",
                    "type": "synonym"
                },
                {
                    "name": "NF kappaB1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B1 p84/NF-kappa-B1 p98",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB p50",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor kappaB p50",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light chain gene enhancer in B-cells 1, p105",
                    "type": "synonym"
                },
                {
                    "name": "p50 subunit of NF kappaB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkb1",
                    "type": "recommended"
                },
                {
                    "name": "NF-KB1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "Nfkb1",
                    "type": "synonym"
                },
                {
                    "name": "p105",
                    "type": "synonym"
                },
                {
                    "name": "p50/p105",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                }
            ],
            "record_id": "P25799-1",
            "evidence": [
                {
                    "id": "0081154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19838-1",
            "uniprot_ac": "P19838",
            "uniprot_id": "NFKB1_HUMAN",
            "refseq_ac": "NP_001158884",
            "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 p105 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF1",
                    "type": "synonym"
                },
                {
                    "name": "EBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit isoform 2 proprotein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p50 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor kappa-B DNA binding subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NFKB1",
                    "type": "recommended"
                },
                {
                    "name": "CVID12",
                    "type": "synonym"
                },
                {
                    "name": "EBP-1",
                    "type": "synonym"
                },
                {
                    "name": "KBF1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kB1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kB",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappabeta",
                    "type": "synonym"
                },
                {
                    "name": "NFKB-p105",
                    "type": "synonym"
                },
                {
                    "name": "NFKB-p50",
                    "type": "synonym"
                },
                {
                    "name": "NFKB1",
                    "type": "synonym"
                },
                {
                    "name": "NFkappaB",
                    "type": "synonym"
                }
            ],
            "record_id": "P19838-1",
            "evidence": [
                {
                    "id": "616576",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616576"
                },
                {
                    "id": "0081154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081154"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63369-1",
            "uniprot_ac": "Q63369",
            "uniprot_id": "NFKB1_RAT",
            "refseq_ac": "NP_001401941",
            "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 p105 subunit",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding factor KBF1",
                    "type": "synonym"
                },
                {
                    "name": "EBP-1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p105 subunit",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B p50",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light chain gene enhancer in B-cells 1, p105",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor of kappa light polypeptide gene enhancer in B-cells 1, p105",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nfkb1",
                    "type": "recommended"
                },
                {
                    "name": "EBP-1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kB",
                    "type": "synonym"
                },
                {
                    "name": "NFKB-p50",
                    "type": "synonym"
                },
                {
                    "name": "Nfkb1",
                    "type": "synonym"
                },
                {
                    "name": "p50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63369-1",
            "evidence": [
                {
                    "id": "0081154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081154"
                }
            ]
        },
        {
            "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": "0081154",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081154"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081154"
}