{
    "disease_id": "DOID:0070615",
    "recommended_name": {
        "id": "DOID:0070615",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070615",
        "name": "autoinflammation, antibody deficiency, and immune dysregulation syndrome",
        "description": "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070615",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070615",
            "name": "APLAID",
            "description": ""
        },
        {
            "id": "DOID:0070615",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070615",
            "name": "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "APLAID",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "autoinflammation, antibody deficiency, and immune dysregulation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013944",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013944",
            "name": "AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated",
            "description": ""
        },
        {
            "id": "MIM:614878",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614878",
            "name": "Autoinflammation, antibody deficiency, and immune dysregulation",
            "description": "Autoinflammation, antibody deficiency, and immune dysregulation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070615"
    ],
    "unlinked_id_list": []
}
