{
    "disease_id": "DOID:0061067",
    "recommended_name": {
        "id": "DOID:0061067",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061067",
        "name": "immunodeficiency 97",
        "description": "A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061067",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061067",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": ""
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": "An autosomal recessive complex immunologic disorder with variable features. Affected individuals present in the first decade of life with inflammatory interstitial lung disease or colitis due to abnormal tissue infiltration by activated T cells. Patients develop autoimmune cytopenias and may have lymphadenopathy; 1 reported patient had features of hemophagocytic lymphohistiocytosis (HLH). Some patients may have recurrent infections associated with mild lymphopenia, hypogammaglobulinemia, and NK cell dysfunction. Immunologic workup indicates signs of significant immune dysregulation with elevation of inflammatory serum markers, variable immune cell defects involving neutrophils, NK cells, and myeloid cells, and disrupted levels of T regulatory cells (Tregs). Two unrelated patients have been reported."
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "IMD97",
            "description": ""
        },
        {
            "id": "MONDO:0030717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030717",
            "name": "immunodeficiency 97 with autoinflammation",
            "description": ""
        },
        {
            "id": "MIM:619802",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619802",
            "name": "Immunodeficiency 97 with autoinflammation",
            "description": "Immunodeficiency 97 with autoinflammation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061067"
    ],
    "unlinked_id_list": []
}