{
    "disease_id": "DOID:0111990",
    "recommended_name": {
        "id": "DOID:0111990",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111990",
        "name": "immunodeficiency 30",
        "description": "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "IMD30",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "MSMD due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111990",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "name": "MSMD due to complete interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 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 IL12RB1 gene."
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "MSMD due to complete IL12RB1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "MSMD due to complete interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "immunodeficiency type 30",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IL-12R1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "IMD30",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "Mendelian susceptibility to mycobacterial infections due to IL12 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013955",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "name": "immunodeficiency 30",
            "description": ""
        },
        {
            "id": "MIM:614891",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614891",
            "name": "Immunodeficiency 30",
            "description": "Immunodeficiency 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111990"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111990",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111990",
            "categories": []
        },
        {
            "id": "MONDO:0013955",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013955",
            "categories": []
        },
        {
            "id": "MIM:614891",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614891",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QM82-1",
            "uniprot_ac": "A0A8M9QM82",
            "uniprot_id": "A0A8M9QM82_DANRE",
            "refseq_ac": "XP_021335625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-6 receptor subunit beta isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-6 receptor subunit beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "il12rb1",
                    "type": "recommended"
                },
                {
                    "name": "il12rb1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QM82-1",
            "evidence": [
                {
                    "id": "0111990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60837-1",
            "uniprot_ac": "Q60837",
            "uniprot_id": "I12R1_MOUSE",
            "refseq_ac": "NP_032379",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 receptor subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "IL-12 receptor beta component",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Interleukin-12 receptor beta-1 chain precursor (IL-12R-beta1) (Interleukin-12 receptor beta) (IL-12 receptor beta component)",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 receptor subunit beta-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 receptor subunit beta-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il12rb1",
                    "type": "recommended"
                },
                {
                    "name": "CD212",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R[b]",
                    "type": "synonym"
                },
                {
                    "name": "Il12rb1",
                    "type": "synonym"
                },
                {
                    "name": "Il12rb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60837-1",
            "evidence": [
                {
                    "id": "0111990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42701-1",
            "uniprot_ac": "P42701",
            "uniprot_id": "I12R1_HUMAN",
            "refseq_ac": "NP_001276952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 receptor subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "IL-12 receptor beta component",
                    "type": "synonym"
                },
                {
                    "name": "IL-12 receptor subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "IL-12RB1",
                    "type": "synonym"
                },
                {
                    "name": "cluster of differentiation 212",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 12 receptor, beta 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 receptor beta-1 chain",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 receptor subunit beta-1 isoform 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IL12RB1",
                    "type": "recommended"
                },
                {
                    "name": "CD212",
                    "type": "synonym"
                },
                {
                    "name": "IL-12R-BETA1",
                    "type": "synonym"
                },
                {
                    "name": "IL12RB1",
                    "type": "synonym"
                },
                {
                    "name": "IL12RB",
                    "type": "synonym"
                },
                {
                    "name": "IL12R",
                    "type": "synonym"
                },
                {
                    "name": "IMD30",
                    "type": "synonym"
                }
            ],
            "record_id": "P42701-1",
            "evidence": [
                {
                    "id": "614891",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614891"
                },
                {
                    "id": "0111990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111990"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PSU7-1",
            "uniprot_ac": "E9PSU7",
            "uniprot_id": "E9PSU7_RAT",
            "refseq_ac": "NP_001164075",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interleukin-12 receptor subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "IL-12 receptor beta component",
                    "type": "synonym"
                },
                {
                    "name": "interleukin 12 receptor, beta 1",
                    "type": "synonym"
                },
                {
                    "name": "interleukin-12 receptor subunit beta-1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Il12rb1",
                    "type": "recommended"
                },
                {
                    "name": "Il12rb1",
                    "type": "synonym"
                },
                {
                    "name": "Il12rb",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PSU7-1",
            "evidence": [
                {
                    "id": "0111990",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111990"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111990"
}