{
    "disease_id": "DOID:0081242",
    "recommended_name": {
        "id": "DOID:0081242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081242",
        "name": "autoimmune interstitial lung, joint, and kidney disease",
        "description": "An autoimmune disease that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0081242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081242",
            "name": "COPA syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081242",
            "name": "Autoimmune interstitial lung disease-arthritis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081242",
            "name": "autoinflammation and autoimmunity, Systemic with immune dysregulation",
            "description": ""
        },
        {
            "id": "DOID:0081242",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081242",
            "name": "systemic autoinflammation and autoimmunity with immune dysregulation 1",
            "description": ""
        },
        {
            "id": "MONDO:0700391",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700391",
            "name": "autoinflammation and autoimmunity with immune dysregulation 1",
            "description": ""
        },
        {
            "id": "MIM:616414",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616414",
            "name": "Autoinflammation and autoimmunity, systemic, with immune dysregulation",
            "description": "Autoinflammation and autoimmunity, systemic, with immune dysregulation"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081242",
            "categories": []
        },
        {
            "id": "MONDO:0700391",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700391",
            "categories": []
        },
        {
            "id": "MIM:616414",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616414",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CIE6-1",
            "uniprot_ac": "Q8CIE6",
            "uniprot_id": "COPA_MOUSE",
            "refseq_ac": "NP_034068",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "Xenopsin-related peptide",
                    "type": "synonym"
                },
                {
                    "name": "alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Copa",
                    "type": "recommended"
                },
                {
                    "name": "Copa",
                    "type": "synonym"
                },
                {
                    "name": "xenin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIE6-1",
            "evidence": [
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53621-1",
            "uniprot_ac": "P53621",
            "uniprot_id": "COPA_HUMAN",
            "refseq_ac": "NP_001091868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "COPI coat complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "HEP-COP",
                    "type": "synonym"
                },
                {
                    "name": "HEPCOP",
                    "type": "synonym"
                },
                {
                    "name": "Xenopsin-related peptide",
                    "type": "synonym"
                },
                {
                    "name": "alpha coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "proxenin",
                    "type": "synonym"
                },
                {
                    "name": "xenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPA",
                    "type": "recommended"
                },
                {
                    "name": "AIAISD1",
                    "type": "synonym"
                },
                {
                    "name": "AIAISD",
                    "type": "synonym"
                },
                {
                    "name": "AILJK",
                    "type": "synonym"
                },
                {
                    "name": "COPA",
                    "type": "synonym"
                },
                {
                    "name": "HEP-COP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-COP",
                    "type": "synonym"
                }
            ],
            "record_id": "P53621-1",
            "evidence": [
                {
                    "id": "616414",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616414"
                },
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53622-1",
            "uniprot_ac": "P53622",
            "uniprot_id": "COPA_YEAST",
            "refseq_ac": "NP_010136",
            "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": "Coatomer subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "Retrieval from endoplasmic reticulum protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Secretory protein 22",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of osmo-sensitivity 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COP1",
                    "type": "recommended"
                },
                {
                    "name": "COP1",
                    "type": "synonym"
                },
                {
                    "name": "D1578",
                    "type": "synonym"
                },
                {
                    "name": "RET1",
                    "type": "synonym"
                },
                {
                    "name": "SEC33",
                    "type": "synonym"
                },
                {
                    "name": "SOO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53622-1",
            "evidence": [
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6T1-1",
            "uniprot_ac": "G3V6T1",
            "uniprot_id": "G3V6T1_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": "Coatomer subunit alpha",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Copa",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6T1-1",
            "evidence": [
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35796-1",
            "uniprot_ac": "O35796",
            "uniprot_id": "C1QBP_RAT",
            "refseq_ac": "NP_062132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "C1qBP",
                    "type": "synonym"
                },
                {
                    "name": "GC1q-R protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein gC1qBP",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, q subcomponent binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein gC1qBP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qbp",
                    "type": "recommended"
                },
                {
                    "name": "C1qbp",
                    "type": "synonym"
                },
                {
                    "name": "Gc1qbp",
                    "type": "synonym"
                },
                {
                    "name": "Habp1",
                    "type": "synonym"
                },
                {
                    "name": "gC1qR",
                    "type": "synonym"
                }
            ],
            "record_id": "O35796-1",
            "evidence": [
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0B8-1",
            "uniprot_ac": "Q9W0B8",
            "uniprot_id": "Q9W0B8_DROME",
            "refseq_ac": "NP_477395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG7961-PA",
                    "type": "synonym"
                },
                {
                    "name": "COPI alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha-coatomer protein",
                    "type": "synonym"
                },
                {
                    "name": "alphaCOP-PA",
                    "type": "synonym"
                },
                {
                    "name": "coat protein (coatomer) alpha, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "coatomer I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "alphaCOP",
                    "type": "recommended"
                },
                {
                    "name": "CG7961",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7961",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7961",
                    "type": "synonym"
                },
                {
                    "name": "alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-Cop",
                    "type": "synonym"
                },
                {
                    "name": "alphaCOP",
                    "type": "synonym"
                },
                {
                    "name": "alphaCop",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0B8-1",
            "evidence": [
                {
                    "id": "0081242",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081242"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081242"
}