{
    "disease_id": "DOID:0061061",
    "recommended_name": {
        "id": "DOID:0061061",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061061",
        "name": "immunodeficiency 91",
        "description": "A primary immunodeficiency disease that is characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the ZNFX1 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061061",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061061",
            "name": "immunodeficiency 91 and hyperinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "immunodeficiency 91 and hyperinflammation",
            "description": "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease."
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "IMD91",
            "description": ""
        },
        {
            "id": "MONDO:0030491",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030491",
            "name": "immunodeficiency, autosomal recessive, due to ZNFX1 deficiency:",
            "description": ""
        },
        {
            "id": "MIM:619644",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619644",
            "name": "Immunodeficiency 91 and hyperinflammation",
            "description": "Immunodeficiency 91 and hyperinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061061"
    ],
    "unlinked_id_list": []
}