{
    "disease_id": "DOID:0060916",
    "recommended_name": {
        "id": "DOID:0060916",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060916",
        "name": "proteasome-associated autoinflammatory syndrome 3",
        "description": "A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060916",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060916",
            "name": "PRAAS3",
            "description": ""
        },
        {
            "id": "MONDO:0054699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054699",
            "name": "proteasome-associated autoinflammatory syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0054699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054699",
            "name": "proteasome-associated autoinflammatory syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0054699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054699",
            "name": "proteasome-associated autoinflammatory syndrome 3 and digenic forms",
            "description": ""
        },
        {
            "id": "MONDO:0054699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054699",
            "name": "PRAAS3",
            "description": ""
        },
        {
            "id": "MIM:617591",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617591",
            "name": "Proteasome-associated autoinflammatory syndrome 3",
            "description": "Proteasome-associated autoinflammatory syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060916"
    ],
    "unlinked_id_list": []
}