{
    "disease_id": "DOID:0111940",
    "recommended_name": {
        "id": "DOID:0111940",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0111940",
            "name": "autosomal recessive primary immunodeficiency due to RORC mutation",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111940",
            "name": "IMD42",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111940",
            "name": "autosomal recessive MSMD due to complete RORgamma receptor defiency",
            "description": ""
        },
        {
            "id": "DOID:0111940",
            "resource": "Disease Ontology",
            "url": "http://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 MSMD due to complete RORgamma receptor defiency",
            "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": "autosomal recessive primary immunodeficiency due to RORC mutation",
            "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": []
}
