{
    "disease_id": "DOID:0060913",
    "recommended_name": {
        "id": "DOID:0060913",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060913",
        "name": "proteosome-associated autoinflammatory syndrome",
        "description": "An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications."
    },
    "synonyms": [
        {
            "id": "MONDO:0054698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054698",
            "name": "proteasome-associated autoinflammatory syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0054698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054698",
            "name": "PRAAS1",
            "description": ""
        },
        {
            "id": "MONDO:0054698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054698",
            "name": "proteasome-associated autoinflammatory syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0054698",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054698",
            "name": "proteasome-associated autoinflammatory syndrome 1 and digenic forms",
            "description": ""
        },
        {
            "id": "MIM:256040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/256040",
            "name": "Proteasome-associated autoinflammatory syndrome 1",
            "description": "Proteasome-associated autoinflammatory syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0050553",
            "label": "proteasome-associated autoinflammatory syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060914",
            "label": "proteosome-associated autoinflammatory syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060915",
            "label": "proteosome-associated autoinflammatory syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060916",
            "label": "proteasome-associated autoinflammatory syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060919",
            "label": "proteosome-associated autoinflammatory syndrome 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060915",
        "DOID:0060913",
        "DOID:0060916",
        "DOID:0050553",
        "DOID:0060919",
        "DOID:0060914"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060913",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060913",
            "categories": []
        },
        {
            "id": "MONDO:0054698",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054698",
            "categories": []
        },
        {
            "id": "MIM:256040",
            "database": "MIM",
            "url": "https://www.omim.org/entry/256040",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28062-1",
            "uniprot_ac": "P28062",
            "uniprot_id": "PSB8_HUMAN",
            "refseq_ac": "NP_004150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome component C13",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5i",
                    "type": "synonym"
                },
                {
                    "name": "Really interesting new gene 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 7",
                    "type": "synonym"
                },
                {
                    "name": "low molecular weight protein 7",
                    "type": "synonym"
                },
                {
                    "name": "macropain subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "protease component C13",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7)",
                    "type": "synonym"
                },
                {
                    "name": "proteasome catalytic subunit 3i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome component C13",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit Y2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 5i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 8",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-8 isoform E1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome-related gene 7",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 10 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB8",
                    "type": "recommended"
                },
                {
                    "name": "ALDD",
                    "type": "synonym"
                },
                {
                    "name": "D6S216E",
                    "type": "synonym"
                },
                {
                    "name": "D6S216",
                    "type": "synonym"
                },
                {
                    "name": "JMP",
                    "type": "synonym"
                },
                {
                    "name": "LMP7",
                    "type": "synonym"
                },
                {
                    "name": "NKJO",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS1",
                    "type": "synonym"
                },
                {
                    "name": "PSMB5i",
                    "type": "synonym"
                },
                {
                    "name": "PSMB8",
                    "type": "synonym"
                },
                {
                    "name": "RING10",
                    "type": "synonym"
                },
                {
                    "name": "Y2",
                    "type": "synonym"
                }
            ],
            "record_id": "P28062-1",
            "evidence": [
                {
                    "id": "256040",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/256040"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060913"
}