{
    "disease_id": "DOID:0080115",
    "recommended_name": {
        "id": "DOID:0080115",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080115",
        "name": "mitochondrial complex III deficiency nuclear type 6",
        "description": "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0014194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "name": "mitochondrial complex III deficiency nuclear type 6",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene."
        },
        {
            "id": "MONDO:0014194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "name": "CYC1 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "name": "mitochondrial complex III deficiency caused by mutation in CYC1",
            "description": ""
        },
        {
            "id": "MONDO:0014194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "name": "MC3DN6",
            "description": ""
        },
        {
            "id": "MONDO:0014194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "name": "mitochondrial complex III deficiency, nuclear type 6",
            "description": ""
        },
        {
            "id": "MIM:615453",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615453",
            "name": "Mitochondrial complex III deficiency, nuclear type 6",
            "description": "Mitochondrial complex III deficiency, nuclear type 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080115"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080115",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080115",
            "categories": []
        },
        {
            "id": "MONDO:0014194",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014194",
            "categories": []
        },
        {
            "id": "MIM:615453",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615453",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D0M3-1",
            "uniprot_ac": "Q9D0M3",
            "uniprot_id": "CY1_MOUSE",
            "refseq_ac": "NP_079843",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c1, heme protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyc1",
                    "type": "recommended"
                },
                {
                    "name": "2610002H19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cyc1",
                    "type": "synonym"
                },
                {
                    "name": "Cyct1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D0M3-1",
            "evidence": [
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08574-1",
            "uniprot_ac": "P08574",
            "uniprot_id": "CY1_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": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYC1",
                    "type": "recommended"
                }
            ],
            "record_id": "P08574-1",
            "evidence": [
                {
                    "id": "615453",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615453"
                },
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07143-1",
            "uniprot_ac": "P07143",
            "uniprot_id": "CY1_YEAST",
            "refseq_ac": "NP_014708",
            "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": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase cytochrome c1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol--cytochrome-c reductase catalytic subunit CYT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYT1",
                    "type": "recommended"
                },
                {
                    "name": "CTC1",
                    "type": "synonym"
                },
                {
                    "name": "CYT1",
                    "type": "synonym"
                },
                {
                    "name": "YOR29-16",
                    "type": "synonym"
                }
            ],
            "record_id": "P07143-1",
            "evidence": [
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFQ8-1",
            "uniprot_ac": "D3ZFQ8",
            "uniprot_id": "D3ZFQ8_RAT",
            "refseq_ac": "NP_001264123",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyc1",
                    "type": "recommended"
                },
                {
                    "name": "Cyc1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFQ8-1",
            "evidence": [
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRL0-1",
            "uniprot_ac": "Q9VRL0",
            "uniprot_id": "Q9VRL0_DROME",
            "refseq_ac": "NP_001246637",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG4769-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-c1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome-c-1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase cytochrome C1",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase cytochrome C1, heme protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c-1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c1, heme protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyt-c1",
                    "type": "recommended"
                },
                {
                    "name": "CG4769",
                    "type": "synonym"
                },
                {
                    "name": "CY1",
                    "type": "synonym"
                },
                {
                    "name": "Cyc1",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-c1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4769",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4769",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey141",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRL0-1",
            "evidence": [
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAM8-1",
            "uniprot_ac": "Q9VAM8",
            "uniprot_id": "Q9VAM8_DROME",
            "refseq_ac": "NP_651683",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c1, heme protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG14508-PA",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-c1L-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome b-c1 complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase cytochrome C1, heme protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c1, heme protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyt-c1L",
                    "type": "recommended"
                },
                {
                    "name": "CG14508",
                    "type": "synonym"
                },
                {
                    "name": "CY1",
                    "type": "synonym"
                },
                {
                    "name": "Cyt-c1L",
                    "type": "synonym"
                },
                {
                    "name": "CytC1L",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14508",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14508",
                    "type": "synonym"
                },
                {
                    "name": "cyt-c1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAM8-1",
            "evidence": [
                {
                    "id": "0080115",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080115"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080115"
}