{
    "disease_id": "DOID:0061079",
    "recommended_name": {
        "id": "DOID:0061079",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061079",
        "name": "immunodeficiency 112",
        "description": "A T cell, B cell, and NK cell deficiency that is characterized by variable manifestations beginning in early childhood and that has_material_basis_in homozygous mutation in the MAP3K14 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0957535",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957535",
            "name": "immunodeficiency 112",
            "description": ""
        },
        {
            "id": "MIM:620449",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620449",
            "name": "Immunodeficiency 112",
            "description": "Immunodeficiency 112"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061079"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061079",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061079",
            "categories": []
        },
        {
            "id": "MONDO:0957535",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957535",
            "categories": []
        },
        {
            "id": "MIM:620449",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620449",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FEY1-1",
            "uniprot_ac": "E7FEY1",
            "uniprot_id": "E7FEY1_DANRE",
            "refseq_ac": "XP_068075359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-beta-inducing kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase NIK",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "map3k14a",
                    "type": "recommended"
                },
                {
                    "name": "map3k14a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FEY1-1",
            "evidence": [
                {
                    "id": "0061079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUL6-1",
            "uniprot_ac": "Q9WUL6",
            "uniprot_id": "M3K14_MOUSE",
            "refseq_ac": "NP_058592",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "NF kappa B-inducing kinase",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-beta-inducing kinase",
                    "type": "synonym"
                },
                {
                    "name": "Nfkb inducing kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase NIK",
                    "type": "synonym"
                },
                {
                    "name": "alymphoplasia",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 14",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase NIK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map3k14",
                    "type": "recommended"
                },
                {
                    "name": "Map3k14",
                    "type": "synonym"
                },
                {
                    "name": "Nik",
                    "type": "synonym"
                },
                {
                    "name": "aly",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUL6-1",
            "evidence": [
                {
                    "id": "0061079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99558-1",
            "uniprot_ac": "Q99558",
            "uniprot_id": "M3K14_HUMAN",
            "refseq_ac": "NP_003945",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "HsNIK",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-beta-inducing kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase NIK",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 14",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase NIK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP3K14",
                    "type": "recommended"
                },
                {
                    "name": "FTDCR1B",
                    "type": "synonym"
                },
                {
                    "name": "HSNIK",
                    "type": "synonym"
                },
                {
                    "name": "HS",
                    "type": "synonym"
                },
                {
                    "name": "IMD112",
                    "type": "synonym"
                },
                {
                    "name": "MAP3K14",
                    "type": "synonym"
                },
                {
                    "name": "NIK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99558-1",
            "evidence": [
                {
                    "id": "620449",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620449"
                },
                {
                    "id": "0061079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01389-1",
            "uniprot_ac": "Q01389",
            "uniprot_id": "BCK1_YEAST",
            "refseq_ac": "NP_012440",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase BCK1/SLK1/SSP31",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase BCK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCK1",
                    "type": "recommended"
                },
                {
                    "name": "BCK1",
                    "type": "synonym"
                },
                {
                    "name": "J0906",
                    "type": "synonym"
                },
                {
                    "name": "LAS3",
                    "type": "synonym"
                },
                {
                    "name": "SAP3",
                    "type": "synonym"
                },
                {
                    "name": "SLK1",
                    "type": "synonym"
                },
                {
                    "name": "SSP31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01389-1",
            "evidence": [
                {
                    "id": "0061079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061079"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTD1-1",
            "uniprot_ac": "D3ZTD1",
            "uniprot_id": "D3ZTD1_RAT",
            "refseq_ac": "NP_001101771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase kinase kinase 14",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.25",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase kinase 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map3k14",
                    "type": "recommended"
                },
                {
                    "name": "Map3k14",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTD1-1",
            "evidence": [
                {
                    "id": "0061079",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061079"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061079"
}