{
    "disease_id": "DOID:0081357",
    "recommended_name": {
        "id": "DOID:0081357",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081357",
        "name": "isolated mitochondrial myopathy",
        "description": "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "DOID:0081357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081357",
            "name": "Autosomal dominant mitochondrial myopathy with exercise intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0014532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014532",
            "name": "autosomal dominant mitochondrial myopathy with exercise intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0014532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014532",
            "name": "IMMD",
            "description": ""
        },
        {
            "id": "MONDO:0014532",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014532",
            "name": "myopathy, isolated mitochondrial, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:616209",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616209",
            "name": "Myopathy, isolated mitochondrial, autosomal dominant",
            "description": "Myopathy, isolated mitochondrial, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081357"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081357",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081357",
            "categories": []
        },
        {
            "id": "MONDO:0014532",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014532",
            "categories": []
        },
        {
            "id": "MIM:616209",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616209",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "616209",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616209"
                },
                {
                    "id": "0081357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081357"
                }
            ]
        },
        {
            "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": "0081357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081357"
                }
            ]
        },
        {
            "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": "0081357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081357"
                }
            ]
        },
        {
            "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": "0081357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081357"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081357"
}