{
    "disease_id": "DOID:0111940",
    "recommended_name": {
        "id": "DOID:0111940",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111940",
        "name": "immunodeficiency 42",
        "description": "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111940",
            "name": "autosomal recessive primary immunodeficiency due to RORC mutation",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111940",
            "name": "IMD42",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111940",
            "name": "autosomal recessive MSMD due to complete RORgamma receptor defiency",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111940",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor 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 RORC gene."
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "IMD42",
            "description": ""
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC",
            "description": ""
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "immunodeficiency 42",
            "description": ""
        },
        {
            "id": "MONDO:0014710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "name": "immunodeficiency type 42",
            "description": ""
        },
        {
            "id": "MIM:616622",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616622",
            "name": "Immunodeficiency 42",
            "description": "Immunodeficiency 42"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111940"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111940",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111940",
            "categories": []
        },
        {
            "id": "MONDO:0014710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014710",
            "categories": []
        },
        {
            "id": "MIM:616622",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616622",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JJ08-1",
            "uniprot_ac": "B8JJ08",
            "uniprot_id": "B8JJ08_DANRE",
            "refseq_ac": "NP_001264023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NR1F3-B",
                    "type": "synonym"
                },
                {
                    "name": "RAR-related orphan receptor C b",
                    "type": "synonym"
                },
                {
                    "name": "RORgamma-B",
                    "type": "synonym"
                },
                {
                    "name": "RORgamma2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rorcb",
                    "type": "recommended"
                },
                {
                    "name": "rorcb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-168n16.2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-158a20.2",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JJ08-1",
            "evidence": [
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HJG5-1",
            "uniprot_ac": "A0AC58HJG5",
            "uniprot_id": "A0AC58HJG5_DANRE",
            "refseq_ac": "XP_073782127",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor ROR-alpha A-like isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-alpha A-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rorc",
                    "type": "recommended"
                },
                {
                    "name": "rorc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HJG5-1",
            "evidence": [
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51450-1",
            "uniprot_ac": "P51450",
            "uniprot_id": "RORG_MOUSE",
            "refseq_ac": "NP_001280663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor ROR-gamma",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor RZR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group F member 3",
                    "type": "synonym"
                },
                {
                    "name": "RAR-related orphan receptor C",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid-related orphan receptor-gamma",
                    "type": "synonym"
                },
                {
                    "name": "TOR",
                    "type": "synonym"
                },
                {
                    "name": "Thymus orphan receptor",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor RZR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group F member 3",
                    "type": "synonym"
                },
                {
                    "name": "retinoid-related orphan receptor-gamma",
                    "type": "synonym"
                },
                {
                    "name": "thymus orphan receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rorc",
                    "type": "recommended"
                },
                {
                    "name": "Nr1f3",
                    "type": "synonym"
                },
                {
                    "name": "RORgamma",
                    "type": "synonym"
                },
                {
                    "name": "Rorc",
                    "type": "synonym"
                },
                {
                    "name": "Rorg",
                    "type": "synonym"
                },
                {
                    "name": "TOR",
                    "type": "synonym"
                },
                {
                    "name": "Thor",
                    "type": "synonym"
                }
            ],
            "record_id": "P51450-1",
            "evidence": [
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51449-1",
            "uniprot_ac": "P51449",
            "uniprot_id": "RORG_HUMAN",
            "refseq_ac": "NP_001001523",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor ROR-gamma",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor RZR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group F member 3",
                    "type": "synonym"
                },
                {
                    "name": "RAR-related orphan receptor C",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid-related orphan receptor-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-gamma isoform b",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor RZR-gamma",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group F member 3",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-binding receptor gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinoid-related orphan receptor gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RORC",
                    "type": "recommended"
                },
                {
                    "name": "IMD42",
                    "type": "synonym"
                },
                {
                    "name": "NR1F3",
                    "type": "synonym"
                },
                {
                    "name": "RORC",
                    "type": "synonym"
                },
                {
                    "name": "RORG",
                    "type": "synonym"
                },
                {
                    "name": "RZR-GAMMA",
                    "type": "synonym"
                },
                {
                    "name": "RZRG",
                    "type": "synonym"
                },
                {
                    "name": "TOR",
                    "type": "synonym"
                }
            ],
            "record_id": "P51449-1",
            "evidence": [
                {
                    "id": "616622",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616622"
                },
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZN69-1",
            "uniprot_ac": "A0A8I5ZN69",
            "uniprot_id": "A0A8I5ZN69_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RAR-related orphan receptor C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rorc",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZN69-1",
            "evidence": [
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31396-1",
            "uniprot_ac": "P31396",
            "uniprot_id": "HR3_DROME",
            "refseq_ac": "NP_001246236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable nuclear hormone receptor HR3",
                    "type": "recommended"
                },
                {
                    "name": "CG33183-PF",
                    "type": "synonym"
                },
                {
                    "name": "Hr3-PF",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group F member 4",
                    "type": "synonym"
                },
                {
                    "name": "complementation group D",
                    "type": "synonym"
                },
                {
                    "name": "dHR3",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor 3, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor 3",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor-like 46",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor-like in 46",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hr3",
                    "type": "recommended"
                },
                {
                    "name": "12.6",
                    "type": "synonym"
                },
                {
                    "name": "2.4",
                    "type": "synonym"
                },
                {
                    "name": "CG11823",
                    "type": "synonym"
                },
                {
                    "name": "CG12208",
                    "type": "synonym"
                },
                {
                    "name": "CG33183",
                    "type": "synonym"
                },
                {
                    "name": "DHR3",
                    "type": "synonym"
                },
                {
                    "name": "Dhr3",
                    "type": "synonym"
                },
                {
                    "name": "DmHr3",
                    "type": "synonym"
                },
                {
                    "name": "DmRORalpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33183",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33183",
                    "type": "synonym"
                },
                {
                    "name": "D",
                    "type": "synonym"
                },
                {
                    "name": "HR3",
                    "type": "synonym"
                },
                {
                    "name": "Hr3",
                    "type": "synonym"
                },
                {
                    "name": "Hr46",
                    "type": "synonym"
                },
                {
                    "name": "NR1F4",
                    "type": "synonym"
                },
                {
                    "name": "dHR3",
                    "type": "synonym"
                },
                {
                    "name": "dhr3",
                    "type": "synonym"
                },
                {
                    "name": "hr46",
                    "type": "synonym"
                },
                {
                    "name": "l(2)46CFi",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k09242",
                    "type": "synonym"
                }
            ],
            "record_id": "P31396-1",
            "evidence": [
                {
                    "id": "0111940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111940"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111940"
}