{
    "disease_id": "DOID:0050553",
    "recommended_name": {
        "id": "DOID:0050553",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050553",
        "name": "proteasome-associated autoinflammatory syndrome 1",
        "description": "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "JMP syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "CANDLE",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "NKJO",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "Nakajo-Nishimura syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "PRAAS1",
            "description": ""
        },
        {
            "id": "DOID:0050553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "name": "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome",
            "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": "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_list": [
        "DOID:0050553"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050553",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050553",
            "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": "P28063-1",
            "uniprot_ac": "P28063",
            "uniprot_id": "PSB8_MOUSE",
            "refseq_ac": "NP_034854",
            "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-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass protein 7",
                    "type": "synonym"
                },
                {
                    "name": "MC13 (LMP7)",
                    "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": "large multifunctional protease 7",
                    "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 MC13",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-8",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-5i",
                    "type": "synonym"
                },
                {
                    "name": "proteosome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)",
                    "type": "synonym"
                },
                {
                    "name": "proteosome beta 8 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb8",
                    "type": "recommended"
                },
                {
                    "name": "Lmp-7",
                    "type": "synonym"
                },
                {
                    "name": "Lmp7",
                    "type": "synonym"
                },
                {
                    "name": "Mc13",
                    "type": "synonym"
                },
                {
                    "name": "Psmb8",
                    "type": "synonym"
                }
            ],
            "record_id": "P28063-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BG41-1",
            "uniprot_ac": "Q8BG41",
            "uniprot_id": "PSB11_MOUSE",
            "refseq_ac": "NP_780413",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome subunit beta type-11",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5t",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta 11 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-11",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-5t",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta5t",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb11",
                    "type": "recommended"
                },
                {
                    "name": "5830406J20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Psmb11",
                    "type": "synonym"
                },
                {
                    "name": "beta5t",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BG41-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55234-1",
            "uniprot_ac": "O55234",
            "uniprot_id": "PSB5_MOUSE",
            "refseq_ac": "NP_035316",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "beta-5",
                    "type": "synonym"
                },
                {
                    "name": "macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta type subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb5",
                    "type": "recommended"
                },
                {
                    "name": "Psmb5",
                    "type": "synonym"
                }
            ],
            "record_id": "O55234-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30656-1",
            "uniprot_ac": "P30656",
            "uniprot_id": "PSB5_YEAST",
            "refseq_ac": "NP_015428",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain subunit PRE2",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex subunit PRE2",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome component PRE2",
                    "type": "synonym"
                },
                {
                    "name": "Proteinase YSCE subunit PRE2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome core particle subunit beta 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRE2",
                    "type": "recommended"
                },
                {
                    "name": "DOA3",
                    "type": "synonym"
                },
                {
                    "name": "P8283.10",
                    "type": "synonym"
                },
                {
                    "name": "PRE2",
                    "type": "synonym"
                },
                {
                    "name": "PRG1",
                    "type": "synonym"
                },
                {
                    "name": "SRR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P30656-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28064-1",
            "uniprot_ac": "P28064",
            "uniprot_id": "PSB8_RAT",
            "refseq_ac": "NP_542945",
            "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-8",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "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": "large multifunctional protease 7",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass polypeptide 7",
                    "type": "synonym"
                },
                {
                    "name": "macropain subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex subunit C13",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type 8 (large multifunctional peptidase 7)",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 8",
                    "type": "synonym"
                },
                {
                    "name": "proteasome component C13",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 8",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-8-like",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-8",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-5i",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb8",
                    "type": "recommended"
                },
                {
                    "name": "Lmp7",
                    "type": "synonym"
                },
                {
                    "name": "Psmb8",
                    "type": "synonym"
                },
                {
                    "name": "Ring10",
                    "type": "synonym"
                }
            ],
            "record_id": "P28064-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28075-1",
            "uniprot_ac": "P28075",
            "uniprot_id": "PSB5_RAT",
            "refseq_ac": "NP_001099197",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "beta-5",
                    "type": "synonym"
                },
                {
                    "name": "macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta 5 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta type subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmb5",
                    "type": "recommended"
                },
                {
                    "name": "Psmb5",
                    "type": "synonym"
                }
            ],
            "record_id": "P28075-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1S5-1",
            "uniprot_ac": "Q9W1S5",
            "uniprot_id": "Q9W1S5_DROME",
            "refseq_ac": "NP_611776",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Proteasome subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG9868-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta5R1-PA",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta5 subunit-related 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta5R subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prosbeta5R1",
                    "type": "recommended"
                },
                {
                    "name": "CG9868",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9868",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9868",
                    "type": "synonym"
                },
                {
                    "name": "Pros-beta-5R1",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta5R1",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta5R",
                    "type": "synonym"
                },
                {
                    "name": "beta5R1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1S5-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INY4-1",
            "uniprot_ac": "Q8INY4",
            "uniprot_id": "Q8INY4_DROME",
            "refseq_ac": "NP_001286022",
            "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": "recommended"
                },
                {
                    "name": "AE003657 - proteasome beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CG31742-PB",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta5R2-PB",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta5 subunit-related 2, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prosbeta5R2",
                    "type": "recommended"
                },
                {
                    "name": "31742",
                    "type": "synonym"
                },
                {
                    "name": "CG31742",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31742",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31742",
                    "type": "synonym"
                },
                {
                    "name": "Prosbeta5R2",
                    "type": "synonym"
                },
                {
                    "name": "anon-AE003657.1",
                    "type": "synonym"
                },
                {
                    "name": "beta5R2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INY4-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5LHX3-1",
            "uniprot_ac": "A5LHX3",
            "uniprot_id": "PSB11_HUMAN",
            "refseq_ac": "NP_001093250",
            "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-11",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5t",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 11",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 5T",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-11",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta-5t",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB11",
                    "type": "recommended"
                },
                {
                    "name": "BETA5T",
                    "type": "synonym"
                },
                {
                    "name": "PSMB11",
                    "type": "synonym"
                }
            ],
            "record_id": "A5LHX3-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28074-1",
            "uniprot_ac": "P28074",
            "uniprot_id": "PSB5_HUMAN",
            "refseq_ac": "NP_001124197",
            "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-5",
                    "type": "recommended"
                },
                {
                    "name": "3.4.25.1",
                    "type": "synonym"
                },
                {
                    "name": "Macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "PSX large multifunctional protease X",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit MB1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome subunit beta-5",
                    "type": "synonym"
                },
                {
                    "name": "beta-5",
                    "type": "synonym"
                },
                {
                    "name": "macropain epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "multicatalytic endopeptidase complex epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, beta type, 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome beta 5 subunit",
                    "type": "synonym"
                },
                {
                    "name": "proteasome catalytic subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chain 6",
                    "type": "synonym"
                },
                {
                    "name": "proteasome epsilon chain",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit MB1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit X",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta 5",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit beta type-5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome subunit, beta type, 5",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 153",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMB5",
                    "type": "recommended"
                },
                {
                    "name": "LMPX",
                    "type": "synonym"
                },
                {
                    "name": "MB1",
                    "type": "synonym"
                },
                {
                    "name": "PSMB5",
                    "type": "synonym"
                },
                {
                    "name": "X",
                    "type": "synonym"
                }
            ],
            "record_id": "P28074-1",
            "evidence": [
                {
                    "id": "0050553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050553"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050553"
}