{
    "disease_id": "DOID:0060915",
    "recommended_name": {
        "id": "DOID:0060915",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060915",
        "name": "proteosome-associated autoinflammatory syndrome 4",
        "description": "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "DOID:0060915",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060915",
            "name": "PRAAS4",
            "description": ""
        },
        {
            "id": "MONDO:0030931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030931",
            "name": "proteasome-associated autoinflammatory syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0030931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030931",
            "name": "PRAAS4",
            "description": ""
        },
        {
            "id": "MONDO:0030931",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030931",
            "name": "proteasome-associated autoinflammatory syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:619183",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619183",
            "name": "Proteasome-associated autoinflammatory syndrome 4",
            "description": "Proteasome-associated autoinflammatory syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060915"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060915",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060915",
            "categories": []
        },
        {
            "id": "MONDO:0030931",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030931",
            "categories": []
        },
        {
            "id": "MIM:619183",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619183",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LXS2-1",
            "uniprot_ac": "Q1LXS2",
            "uniprot_id": "PSMG2_DANRE",
            "refseq_ac": "NP_998197",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome assembly chaperone 2",
                    "type": "recommended"
                },
                {
                    "name": "Tumor necrosis factor superfamily member 5-induced protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembly chaperone 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily member 5-induced protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily, member 5-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "psmg2",
                    "type": "recommended"
                },
                {
                    "name": "psmg2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-263o22.1",
                    "type": "synonym"
                },
                {
                    "name": "tnfsf5ip1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb51b11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73278",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LXS2-1",
            "evidence": [
                {
                    "id": "0060915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EST4-1",
            "uniprot_ac": "Q9EST4",
            "uniprot_id": "PSMG2_MOUSE",
            "refseq_ac": "NP_598899",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome assembly chaperone 2",
                    "type": "recommended"
                },
                {
                    "name": "CD40 ligand-activated specific transcript 3",
                    "type": "synonym"
                },
                {
                    "name": "Pba2",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chaperone homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor superfamily member 5-induced protein 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembly chaperone 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembly chaperone 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chaperone homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily, member 5-induced protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Psmg2",
                    "type": "recommended"
                },
                {
                    "name": "1700017I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Clast3",
                    "type": "synonym"
                },
                {
                    "name": "Pba2",
                    "type": "synonym"
                },
                {
                    "name": "Psmg2",
                    "type": "synonym"
                },
                {
                    "name": "Tnfsf5ip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EST4-1",
            "evidence": [
                {
                    "id": "0060915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969U7-1",
            "uniprot_ac": "Q969U7",
            "uniprot_id": "PSMG2_HUMAN",
            "refseq_ac": "NP_064617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome assembly chaperone 2",
                    "type": "recommended"
                },
                {
                    "name": "CD40 ligand-activated specific transcript 3",
                    "type": "synonym"
                },
                {
                    "name": "HDCMC29P",
                    "type": "synonym"
                },
                {
                    "name": "HSPC260",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocellular carcinoma-susceptibility protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PAC-2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor necrosis factor superfamily member 5-induced protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma-susceptibility protein 3",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3)",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) assembly chaperone 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembling chaperone 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembly chaperone 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor superfamily member 5-induced protein 1",
                    "type": "synonym"
                },
                {
                    "name": "x 003 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMG2",
                    "type": "recommended"
                },
                {
                    "name": "CLAST3",
                    "type": "synonym"
                },
                {
                    "name": "HCCA3",
                    "type": "synonym"
                },
                {
                    "name": "HsT1707",
                    "type": "synonym"
                },
                {
                    "name": "MDS003",
                    "type": "synonym"
                },
                {
                    "name": "PAC2",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS4",
                    "type": "synonym"
                },
                {
                    "name": "PSMG2",
                    "type": "synonym"
                },
                {
                    "name": "TNFSF5IP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969U7-1",
            "evidence": [
                {
                    "id": "619183",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619183"
                },
                {
                    "id": "0060915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36040-1",
            "uniprot_ac": "P36040",
            "uniprot_id": "POC2_YEAST",
            "refseq_ac": "NP_012716",
            "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 assembly chaperone 2",
                    "type": "recommended"
                },
                {
                    "name": "Add66p",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1-proteinase inhibitor-degradation deficient protein 66",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome biogenesis-associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADD66",
                    "type": "recommended"
                },
                {
                    "name": "ADD66",
                    "type": "synonym"
                },
                {
                    "name": "PBA2",
                    "type": "synonym"
                },
                {
                    "name": "POC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P36040-1",
            "evidence": [
                {
                    "id": "0060915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060915"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEC2-1",
            "uniprot_ac": "Q9VEC2",
            "uniprot_id": "Q9VEC2_DROME",
            "refseq_ac": "NP_650685",
            "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 assembly chaperone 2",
                    "type": "recommended"
                },
                {
                    "name": "CG12321-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG12321",
                    "type": "recommended"
                },
                {
                    "name": "CG12321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12321",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12321",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEC2-1",
            "evidence": [
                {
                    "id": "0060915",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060915"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060915"
}