{
    "disease_id": "DOID:0111959",
    "recommended_name": {
        "id": "DOID:0111959",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111959",
        "name": "immunodeficiency 15B",
        "description": "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111959",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111959",
            "name": "IMD15B",
            "description": ""
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "severe combined immunodeficiency due to IKK2 deficiency",
            "description": "Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present."
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "SCID due to IKK2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "immunodeficiency 15B",
            "description": ""
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "immunodeficiency type 15",
            "description": ""
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "IMD15",
            "description": ""
        },
        {
            "id": "MONDO:0014267",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "name": "immunodeficiency 15",
            "description": ""
        },
        {
            "id": "MIM:615592",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615592",
            "name": "Immunodeficiency 15B",
            "description": "Immunodeficiency 15B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111959"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111959",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111959",
            "categories": []
        },
        {
            "id": "MONDO:0014267",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014267",
            "categories": []
        },
        {
            "id": "MIM:615592",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615592",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NIE6-1",
            "uniprot_ac": "A0A8M1NIE6",
            "uniprot_id": "A0A8M1NIE6_DANRE",
            "refseq_ac": "NP_001116737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "IkappaB kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "Ikkb",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ikbkb",
                    "type": "recommended"
                },
                {
                    "name": "ikbkb",
                    "type": "synonym"
                },
                {
                    "name": "ikk2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NIE6-1",
            "evidence": [
                {
                    "id": "0111959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111959"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88351-1",
            "uniprot_ac": "O88351",
            "uniprot_id": "IKKB_MOUSE",
            "refseq_ac": "NP_034676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK-B",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "IkBKB",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKB",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikbkb",
                    "type": "recommended"
                },
                {
                    "name": "IKK-2",
                    "type": "synonym"
                },
                {
                    "name": "IKK-B",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "IKK[b]",
                    "type": "synonym"
                },
                {
                    "name": "IKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "Ikbkb",
                    "type": "synonym"
                },
                {
                    "name": "Ikkb",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKB",
                    "type": "synonym"
                }
            ],
            "record_id": "O88351-1",
            "evidence": [
                {
                    "id": "0111959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111959"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14920-1",
            "uniprot_ac": "O14920",
            "uniprot_id": "IKKB_HUMAN",
            "refseq_ac": "NP_001229707",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK-2",
                    "type": "synonym"
                },
                {
                    "name": "IKK-B",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "IkBKB",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKB",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit beta isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor kappa B kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKBKB",
                    "type": "recommended"
                },
                {
                    "name": "IKBKB",
                    "type": "synonym"
                },
                {
                    "name": "IKK-2",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "IKKB",
                    "type": "synonym"
                },
                {
                    "name": "IMD15A",
                    "type": "synonym"
                },
                {
                    "name": "IMD15B",
                    "type": "synonym"
                },
                {
                    "name": "IMD15",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKB",
                    "type": "synonym"
                }
            ],
            "record_id": "O14920-1",
            "evidence": [
                {
                    "id": "615592",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615592"
                },
                {
                    "id": "0111959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111959"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QY78-1",
            "uniprot_ac": "Q9QY78",
            "uniprot_id": "IKKB_RAT",
            "refseq_ac": "NP_445807",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "I-kappa-B-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK-B",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "IkBKB",
                    "type": "synonym"
                },
                {
                    "name": "NFKBIKB",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappaB kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa B kinase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear factor NF-kappa-B inhibitor kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase IKBKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ikbkb",
                    "type": "recommended"
                },
                {
                    "name": "AIM-1",
                    "type": "synonym"
                },
                {
                    "name": "IKK2",
                    "type": "synonym"
                },
                {
                    "name": "Ikbkb",
                    "type": "synonym"
                },
                {
                    "name": "Ikkb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QY78-1",
            "evidence": [
                {
                    "id": "0111959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111959"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEZ5-1",
            "uniprot_ac": "Q9VEZ5",
            "uniprot_id": "IKKB_DROME",
            "refseq_ac": "NP_524751",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitor of nuclear factor kappa-B kinase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.10",
                    "type": "synonym"
                },
                {
                    "name": "CG4201-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cactus kinase IKK",
                    "type": "synonym"
                },
                {
                    "name": "DLAK",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "IKK-like protein",
                    "type": "synonym"
                },
                {
                    "name": "IKKbeta-PB",
                    "type": "synonym"
                },
                {
                    "name": "Immune response deficient protein 5",
                    "type": "synonym"
                },
                {
                    "name": "LPS-responsive kinase",
                    "type": "synonym"
                },
                {
                    "name": "LPS-responsive-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Lipopolysaccharide-activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "cactus kinase",
                    "type": "synonym"
                },
                {
                    "name": "immune response deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "immune response-deficient 5",
                    "type": "synonym"
                },
                {
                    "name": "lipopolysaccharide activated kinase",
                    "type": "synonym"
                },
                {
                    "name": "mmune response deficient 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKKbeta",
                    "type": "recommended"
                },
                {
                    "name": "CG4201",
                    "type": "synonym"
                },
                {
                    "name": "DIK",
                    "type": "synonym"
                },
                {
                    "name": "DLAK",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKBeta",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKb",
                    "type": "synonym"
                },
                {
                    "name": "DmIKK",
                    "type": "synonym"
                },
                {
                    "name": "DmIkkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4201",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkb",
                    "type": "synonym"
                },
                {
                    "name": "IKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "IKKBeta",
                    "type": "synonym"
                },
                {
                    "name": "IKKB",
                    "type": "synonym"
                },
                {
                    "name": "IKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "IKKb",
                    "type": "synonym"
                },
                {
                    "name": "IKK",
                    "type": "synonym"
                },
                {
                    "name": "IK",
                    "type": "synonym"
                },
                {
                    "name": "IRD-5",
                    "type": "synonym"
                },
                {
                    "name": "IRD5",
                    "type": "synonym"
                },
                {
                    "name": "Ikkbeta",
                    "type": "synonym"
                },
                {
                    "name": "Ikkb",
                    "type": "synonym"
                },
                {
                    "name": "Ik",
                    "type": "synonym"
                },
                {
                    "name": "Ird-5",
                    "type": "synonym"
                },
                {
                    "name": "Ird5",
                    "type": "synonym"
                },
                {
                    "name": "LRK",
                    "type": "synonym"
                },
                {
                    "name": "Lak",
                    "type": "synonym"
                },
                {
                    "name": "anon-89Bd",
                    "type": "synonym"
                },
                {
                    "name": "dIKK-beta",
                    "type": "synonym"
                },
                {
                    "name": "dIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "dIKK",
                    "type": "synonym"
                },
                {
                    "name": "dLak",
                    "type": "synonym"
                },
                {
                    "name": "dmIKKbeta",
                    "type": "synonym"
                },
                {
                    "name": "ikk",
                    "type": "synonym"
                },
                {
                    "name": "ird-5",
                    "type": "synonym"
                },
                {
                    "name": "ird5/DmIkk[beta]",
                    "type": "synonym"
                },
                {
                    "name": "ird5",
                    "type": "synonym"
                },
                {
                    "name": "ird[5]",
                    "type": "synonym"
                },
                {
                    "name": "ird",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEZ5-1",
            "evidence": [
                {
                    "id": "0111959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111959"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111959"
}