{
    "disease_id": "DOID:0111950",
    "recommended_name": {
        "id": "DOID:0111950",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111950",
        "name": "immunodeficiency 29",
        "description": "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "IL12B deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "IMD29",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "MSMD due to complete IL12B deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "MSMD due to complete interleukin 12B deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "immunodeficiency 29, mycobacteriosis",
            "description": ""
        },
        {
            "id": "DOID:0111950",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency",
            "description": "Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene."
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "MSMD due to complete IL12B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "MSMD due to complete interleukin 12B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "immunodeficiency type 29",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "IMD29",
            "description": ""
        },
        {
            "id": "MONDO:0013954",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "name": "immunodeficiency 29",
            "description": ""
        },
        {
            "id": "MIM:614890",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614890",
            "name": "Immunodeficiency 29",
            "description": "Immunodeficiency 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111950"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111950",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111950",
            "categories": []
        },
        {
            "id": "MONDO:0013954",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013954",
            "categories": []
        },
        {
            "id": "MIM:614890",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614890",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P43432-1",
            "uniprot_ac": "P43432",
            "uniprot_id": "IL12B_MOUSE",
            "refseq_ac": "NP_001290173",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CLMF p40",
                    "type": "synonym"
                },
                {
                    "name": "Cytotoxic lymphocyte maturation factor 40 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 p40 subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 subunit p40",
                    "type": "synonym"
                },
                {
                    "name": "IL-12B",
                    "type": "synonym"
                },
                {
                    "name": "IL-23 subunit p40",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic lymphocyte maturation factor 40 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 p40 subunit",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il12b",
                    "type": "recommended"
                },
                {
                    "name": "Il-12b",
                    "type": "synonym"
                },
                {
                    "name": "Il-12p40",
                    "type": "synonym"
                },
                {
                    "name": "Il12b",
                    "type": "synonym"
                },
                {
                    "name": "Il12p40",
                    "type": "synonym"
                },
                {
                    "name": "p40",
                    "type": "synonym"
                }
            ],
            "record_id": "P43432-1",
            "evidence": [
                {
                    "id": "0111950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29460-1",
            "uniprot_ac": "P29460",
            "uniprot_id": "IL12B_HUMAN",
            "refseq_ac": "NP_002178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CLMF p40",
                    "type": "synonym"
                },
                {
                    "name": "Cytotoxic lymphocyte maturation factor 40 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 subunit p40",
                    "type": "synonym"
                },
                {
                    "name": "IL-12B",
                    "type": "synonym"
                },
                {
                    "name": "IL12, subunit p40",
                    "type": "synonym"
                },
                {
                    "name": "NK cell stimulatory factor chain 2",
                    "type": "synonym"
                },
                {
                    "name": "NKSF2",
                    "type": "synonym"
                },
                {
                    "name": "cytotoxic lymphocyte maturation factor 40 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 12, p40",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 beta chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 subunit beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "natural killer cell stimulatory factor, 40 kD subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL12B",
                    "type": "recommended"
                },
                {
                    "name": "CLMF2",
                    "type": "synonym"
                },
                {
                    "name": "CLMF",
                    "type": "synonym"
                },
                {
                    "name": "IL-12B",
                    "type": "synonym"
                },
                {
                    "name": "IL12B",
                    "type": "synonym"
                },
                {
                    "name": "IMD28",
                    "type": "synonym"
                },
                {
                    "name": "IMD29",
                    "type": "synonym"
                },
                {
                    "name": "NKSF2",
                    "type": "synonym"
                },
                {
                    "name": "NKSF",
                    "type": "synonym"
                }
            ],
            "record_id": "P29460-1",
            "evidence": [
                {
                    "id": "614890",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614890"
                },
                {
                    "id": "0111950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111950"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU71-1",
            "uniprot_ac": "E9PU71",
            "uniprot_id": "E9PU71_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Cytotoxic lymphocyte maturation factor 40 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 subunit p40",
                    "type": "synonym"
                },
                {
                    "name": "IL-12B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il12b",
                    "type": "recommended"
                },
                {
                    "name": "IL12B",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU71-1",
            "evidence": [
                {
                    "id": "0111950",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111950"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111950"
}