{
    "disease_id": "DOID:0061093",
    "recommended_name": {
        "id": "DOID:0061093",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061093",
        "name": "immunodeficiency 128",
        "description": "A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0975834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975834",
            "name": "immunodeficiency 128",
            "description": ""
        },
        {
            "id": "MIM:620983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620983",
            "name": "Immunodeficiency 128",
            "description": "Immunodeficiency 128"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061093"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061093",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061093",
            "categories": []
        },
        {
            "id": "MONDO:0975834",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0975834",
            "categories": []
        },
        {
            "id": "MIM:620983",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620983",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9PUE4-1",
            "uniprot_ac": "Q9PUE4",
            "uniprot_id": "COPG2_DANRE",
            "refseq_ac": "NP_571069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit gamma-2",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-2-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-2-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit gamma 2",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "gamma-2-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-2-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-cop",
                    "type": "synonym"
                },
                {
                    "name": "gamma2-cop",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "copg2",
                    "type": "recommended"
                },
                {
                    "name": "cb943",
                    "type": "synonym"
                },
                {
                    "name": "copg2",
                    "type": "synonym"
                },
                {
                    "name": "copg",
                    "type": "synonym"
                },
                {
                    "name": "fi31b06",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-285d14.8",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi31b06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9PUE4-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QZE5-1",
            "uniprot_ac": "Q9QZE5",
            "uniprot_id": "COPG1_MOUSE",
            "refseq_ac": "NP_059505",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-coat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Copg1",
                    "type": "recommended"
                },
                {
                    "name": "Copg1",
                    "type": "synonym"
                },
                {
                    "name": "Copg",
                    "type": "synonym"
                },
                {
                    "name": "D6Ertd71e",
                    "type": "synonym"
                },
                {
                    "name": "D6Wsu16e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZE5-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y678-1",
            "uniprot_ac": "Q9Y678",
            "uniprot_id": "COPG1_HUMAN",
            "refseq_ac": "NP_057212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "COPI coat complex subunit gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coat protein gamma-cop",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-coat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPG1",
                    "type": "recommended"
                },
                {
                    "name": "COPG1",
                    "type": "synonym"
                },
                {
                    "name": "COPG",
                    "type": "synonym"
                },
                {
                    "name": "IMD128",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y678-1",
            "evidence": [
                {
                    "id": "620983",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620983"
                },
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32074-1",
            "uniprot_ac": "P32074",
            "uniprot_id": "COPG_YEAST",
            "refseq_ac": "NP_014112",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "Gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC21",
                    "type": "recommended"
                },
                {
                    "name": "N0543",
                    "type": "synonym"
                },
                {
                    "name": "SEC21",
                    "type": "synonym"
                }
            ],
            "record_id": "P32074-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4AEF8-1",
            "uniprot_ac": "Q4AEF8",
            "uniprot_id": "COPG1_RAT",
            "refseq_ac": "NP_001026992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit gamma-1",
                    "type": "recommended"
                },
                {
                    "name": "COPI coat complex subunit gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex, subunit gamma 1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma-1",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-1-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-coat protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Copg1",
                    "type": "recommended"
                },
                {
                    "name": "Copg1",
                    "type": "synonym"
                },
                {
                    "name": "Copg",
                    "type": "synonym"
                },
                {
                    "name": "Hmces",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4AEF8-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63515-1",
            "uniprot_ac": "Q63515",
            "uniprot_id": "C4BPB_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "C4b-binding protein beta chain",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "C4bpb",
                    "type": "recommended"
                }
            ],
            "record_id": "Q63515-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8I0G5-1",
            "uniprot_ac": "Q8I0G5",
            "uniprot_id": "COPG_DROME",
            "refseq_ac": "NP_001163784",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "CG1528-PC",
                    "type": "synonym"
                },
                {
                    "name": "COPI gamma subunit",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coat protein (coatomer) gamma, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "gamma-coatomer protein",
                    "type": "synonym"
                },
                {
                    "name": "gammaCOP-PC",
                    "type": "synonym"
                },
                {
                    "name": "gammaCop",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S057302b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gammaCOP",
                    "type": "recommended"
                },
                {
                    "name": "02",
                    "type": "synonym"
                },
                {
                    "name": "0573/02",
                    "type": "synonym"
                },
                {
                    "name": "573.02",
                    "type": "synonym"
                },
                {
                    "name": "CG1528",
                    "type": "synonym"
                },
                {
                    "name": "COPIgamma",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1528",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1528",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.334",
                    "type": "synonym"
                },
                {
                    "name": "copg",
                    "type": "synonym"
                },
                {
                    "name": "gamma-COP",
                    "type": "synonym"
                },
                {
                    "name": "gamma-Cop",
                    "type": "synonym"
                },
                {
                    "name": "gamma-cop",
                    "type": "synonym"
                },
                {
                    "name": "gammaCOP",
                    "type": "synonym"
                },
                {
                    "name": "gammaCop",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S057302b",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S057302",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8I0G5-1",
            "evidence": [
                {
                    "id": "0061093",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061093"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061093"
}