{
    "disease_id": "DOID:0111949",
    "recommended_name": {
        "id": "DOID:0111949",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111949",
        "name": "immunodeficiency 36",
        "description": "A combined T cell and B cell immunodeficiency characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "activated phosphoinositide 3-kinase delta syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "IMD36",
            "description": ""
        },
        {
            "id": "DOID:0111949",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111949",
            "name": "immunodeficiency-36 with lymphoproliferation",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency 36 with lymphoproliferation",
            "description": "A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity."
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "APDS2",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "IMD36",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "activated PI3K-delta syndrome-2",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency 36",
            "description": ""
        },
        {
            "id": "MONDO:0014453",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014453",
            "name": "immunodeficiency type 36",
            "description": ""
        },
        {
            "id": "MIM:616005",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616005",
            "name": "Immunodeficiency 36 with lymphoproliferation",
            "description": "Immunodeficiency 36 with lymphoproliferation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111949"
    ],
    "unlinked_id_list": []
}