{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0060916",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060916",
            "categories": []
        },
        {
            "id": "MONDO:0054699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054699",
            "categories": []
        },
        {
            "id": "MIM:617591",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617591",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P99026-1",
            "uniprot_ac": "P99026",
            "uniprot_id": "PSB4_MOUSE",
            "refseq_ac": "NP_032971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-4",
                    "type": "recommended"
                },
                {
                    "name": "Low molecular mass protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Macropain beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-7",
                    "type": "synonym"
                },
                {
                    "name": "beta-7",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 3",
                    "type": "synonym"
                },
                {
                    "name": "macropain beta chain",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex beta chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 3",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-4",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb4",
                    "type": "recommended"
                },
                {
                    "name": "Lmp3",
                    "type": "synonym"
                },
                {
                    "name": "Pros-27",
                    "type": "synonym"
                },
                {
                    "name": "Psmb4",
                    "type": "synonym"
                }
            ],
            "record_id": "P99026-1",
            "evidence": [
                {
                    "id": "0060916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28070-1",
            "uniprot_ac": "P28070",
            "uniprot_id": "PSB4_HUMAN",
            "refseq_ac": "NP_002787",
            "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-4",
                    "type": "recommended"
                },
                {
                    "name": "26 kDa prosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "HsBPROS26",
                    "type": "synonym"
                },
                {
                    "name": "HsN3",
                    "type": "synonym"
                },
                {
                    "name": "Macropain beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex beta chain",
                    "type": "synonym"
                },
                {
                    "name": "PROS-26",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-7",
                    "type": "synonym"
                },
                {
                    "name": "beta-7",
                    "type": "synonym"
                },
                {
                    "name": "hsBPROS26",
                    "type": "synonym"
                },
                {
                    "name": "macropain beta chain",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex beta chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 4",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 3",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit HsN3",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-4",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit, beta type, 4",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 79P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB4",
                    "type": "recommended"
                },
                {
                    "name": "HN3",
                    "type": "synonym"
                },
                {
                    "name": "HsN3",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS3",
                    "type": "synonym"
                },
                {
                    "name": "PROS-26",
                    "type": "synonym"
                },
                {
                    "name": "PROS26",
                    "type": "synonym"
                },
                {
                    "name": "PSMB4",
                    "type": "synonym"
                }
            ],
            "record_id": "P28070-1",
            "evidence": [
                {
                    "id": "617591",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617591"
                },
                {
                    "id": "0060916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28065-1",
            "uniprot_ac": "P28065",
            "uniprot_id": "PSB9_HUMAN",
            "refseq_ac": "NP_002791",
            "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-9",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Macropain chain 7",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex chain 7",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 7",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-1i",
                    "type": "synonym"
                },
                {
                    "name": "Really interesting new gene 12 protein",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass protein 2",
                    "type": "synonym"
                },
                {
                    "name": "macropain chain 7",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex chain 7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2)",
                    "type": "synonym"
                },
                {
                    "name": "proteasome catalytic subunit 1i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 6i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 9",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-9",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-1i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta1i",
                    "type": "synonym"
                },
                {
                    "name": "proteasome-related gene 2",
                    "type": "synonym"
                },
                {
                    "name": "really interesting new gene 12 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB9",
                    "type": "recommended"
                },
                {
                    "name": "LMP2",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS3",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS6",
                    "type": "synonym"
                },
                {
                    "name": "PSMB6i",
                    "type": "synonym"
                },
                {
                    "name": "PSMB9",
                    "type": "synonym"
                },
                {
                    "name": "RING12",
                    "type": "synonym"
                },
                {
                    "name": "beta1i",
                    "type": "synonym"
                }
            ],
            "record_id": "P28065-1",
            "evidence": [
                {
                    "id": "617591",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617591"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30657-1",
            "uniprot_ac": "P30657",
            "uniprot_id": "PSB7_YEAST",
            "refseq_ac": "NP_116708",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-7",
                    "type": "recommended"
                },
                {
                    "name": "Macropain subunit PRE4",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit PRE4",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome component PRE4",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCE subunit PRE4",
                    "type": "synonym"
                },
                {
                    "name": "proteasome core particle subunit beta 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRE4",
                    "type": "recommended"
                },
                {
                    "name": "PRE4",
                    "type": "synonym"
                }
            ],
            "record_id": "P30657-1",
            "evidence": [
                {
                    "id": "0060916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34067-1",
            "uniprot_ac": "P34067",
            "uniprot_id": "PSB4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-4",
                    "type": "recommended"
                },
                {
                    "name": "Macropain beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome beta chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-7",
                    "type": "synonym"
                },
                {
                    "name": "RN3",
                    "type": "synonym"
                },
                {
                    "name": "beta-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb4",
                    "type": "recommended"
                }
            ],
            "record_id": "P34067-1",
            "evidence": [
                {
                    "id": "0060916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060916"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNA5-1",
            "uniprot_ac": "Q9VNA5",
            "uniprot_id": "PSB4_DROME",
            "refseq_ac": "NP_649529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-4",
                    "type": "recommended"
                },
                {
                    "name": "CG12000-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta4",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta7-PA",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta type-7",
                    "type": "synonym"
                },
                {
                    "name": "beta-type 4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta7",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta7 subunit, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prosbeta7",
                    "type": "recommended"
                },
                {
                    "name": "12000",
                    "type": "synonym"
                },
                {
                    "name": "154275_at",
                    "type": "synonym"
                },
                {
                    "name": "Beta-7",
                    "type": "synonym"
                },
                {
                    "name": "CG12000",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12000",
                    "type": "synonym"
                },
                {
                    "name": "GC12000",
                    "type": "synonym"
                },
                {
                    "name": "Prosb4",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta4",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta7",
                    "type": "synonym"
                },
                {
                    "name": "Prot. beta4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.326",
                    "type": "synonym"
                },
                {
                    "name": "beta-4",
                    "type": "synonym"
                },
                {
                    "name": "beta-7",
                    "type": "synonym"
                },
                {
                    "name": "beta7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNA5-1",
            "evidence": [
                {
                    "id": "0060916",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060916"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060916"
}