{
    "disease_id": "DOID:0080504",
    "recommended_name": {
        "id": "DOID:0080504",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080504",
        "name": "Parkinson's disease 22",
        "description": "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0080504",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080504",
            "name": "autosomal dominant Parkinson's disease 22",
            "description": ""
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "Parkinson disease 22, autosomal dominant",
            "description": "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene."
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "CHCHD2 Parkinson disease",
            "description": ""
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "PARK22",
            "description": ""
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "Parkinson disease 22, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "Parkinson disease 22, autosomal dominant; PARK22",
            "description": ""
        },
        {
            "id": "MONDO:0014742",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "name": "Parkinson disease caused by mutation in CHCHD2",
            "description": ""
        },
        {
            "id": "MIM:616710",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616710",
            "name": "Parkinson disease 22",
            "description": "Parkinson disease 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080504"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080504",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080504",
            "categories": []
        },
        {
            "id": "MONDO:0014742",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014742",
            "categories": []
        },
        {
            "id": "MIM:616710",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616710",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D1L0-1",
            "uniprot_ac": "Q9D1L0",
            "uniprot_id": "CHCH2_MOUSE",
            "refseq_ac": "NP_077128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ethanol induced 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chchd2",
                    "type": "recommended"
                },
                {
                    "name": "Chchd2",
                    "type": "synonym"
                },
                {
                    "name": "Etohi6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1L0-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6H1-1",
            "uniprot_ac": "Q9Y6H1",
            "uniprot_id": "CHCH2_HUMAN",
            "refseq_ac": "NP_057223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "16.7kD protein",
                    "type": "synonym"
                },
                {
                    "name": "Aging-associated gene 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "HCV NS2 trans-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "MIX17 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "NS2TP",
                    "type": "synonym"
                },
                {
                    "name": "aging-associated gene 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondria nuclear retrograde regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial nuclear retrograde regulator 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHCHD2",
                    "type": "recommended"
                },
                {
                    "name": "AAG10",
                    "type": "synonym"
                },
                {
                    "name": "C7orf17",
                    "type": "synonym"
                },
                {
                    "name": "CHCHD2",
                    "type": "synonym"
                },
                {
                    "name": "MIX17B",
                    "type": "synonym"
                },
                {
                    "name": "MNRR1",
                    "type": "synonym"
                },
                {
                    "name": "NS2TP",
                    "type": "synonym"
                },
                {
                    "name": "PARK22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6H1-1",
            "evidence": [
                {
                    "id": "616710",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616710"
                },
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03667-1",
            "uniprot_ac": "Q03667",
            "uniprot_id": "MIX17_YEAST",
            "refseq_ac": "NP_013715",
            "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": "Mitochondrial intermembrane space cysteine motif-containing protein MIX17",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial intermembrane space CX(n)C motif protein of 17 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Mix17p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MIX17",
                    "type": "recommended"
                },
                {
                    "name": "MIC17",
                    "type": "synonym"
                },
                {
                    "name": "MIX17",
                    "type": "synonym"
                },
                {
                    "name": "YM8270.04",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03667-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R785-1",
            "uniprot_ac": "M0R785",
            "uniprot_id": "M0R785_RAT",
            "refseq_ac": "NP_001015019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain containing protein 2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "SCAN domain containing 3 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "SCAN domain containing 3, pseudogene 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain containing 2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chchd2l3",
                    "type": "recommended"
                },
                {
                    "name": "Chchd2",
                    "type": "recommended"
                },
                {
                    "name": "Chchd2l3",
                    "type": "synonym"
                },
                {
                    "name": "Chchd2",
                    "type": "synonym"
                },
                {
                    "name": "Scand3-ps1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R785-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7EXD9-1",
            "uniprot_ac": "F7EXD9",
            "uniprot_id": "F7EXD9_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": "Coiled-coil-helix-coiled-coil-helix domain containing 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chchd10",
                    "type": "recommended"
                }
            ],
            "record_id": "F7EXD9-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VX77-1",
            "uniprot_ac": "Q9VX77",
            "uniprot_id": "Q9VX77_DROME",
            "refseq_ac": "NP_573196",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5010-PA",
                    "type": "synonym"
                },
                {
                    "name": "Chchd2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain containing 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "anon-15Dd",
                    "type": "synonym"
                },
                {
                    "name": "transcript f",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chchd2",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE73921",
                    "type": "synonym"
                },
                {
                    "name": "C2C10H",
                    "type": "synonym"
                },
                {
                    "name": "CG5010",
                    "type": "synonym"
                },
                {
                    "name": "CHCHD2",
                    "type": "synonym"
                },
                {
                    "name": "Chchd2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5010",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5010",
                    "type": "synonym"
                },
                {
                    "name": "anon-15Dd",
                    "type": "synonym"
                },
                {
                    "name": "dCHCHD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VX77-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WYQ3-1",
            "uniprot_ac": "Q8WYQ3",
            "uniprot_id": "CHC10_HUMAN",
            "refseq_ac": "NP_001288268",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "MIX17 homolog A",
                    "type": "synonym"
                },
                {
                    "name": "Protein N27C7-4",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHCHD10",
                    "type": "recommended"
                },
                {
                    "name": "C22orf16",
                    "type": "synonym"
                },
                {
                    "name": "CHCHD10",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS2",
                    "type": "synonym"
                },
                {
                    "name": "IMMD",
                    "type": "synonym"
                },
                {
                    "name": "MIX17A",
                    "type": "synonym"
                },
                {
                    "name": "N27C7-4",
                    "type": "synonym"
                },
                {
                    "name": "SMAJ",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WYQ3-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5T1J5-1",
            "uniprot_ac": "Q5T1J5",
            "uniprot_id": "CHCH9_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil-helix-coiled-coil-helix domain-containing 2 pseudogene 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHCHD2P9",
                    "type": "recommended"
                },
                {
                    "name": "C9orf49",
                    "type": "synonym"
                },
                {
                    "name": "CHCHD9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5T1J5-1",
            "evidence": [
                {
                    "id": "0080504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080504"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080504"
}