{
    "disease_id": "DOID:0080116",
    "recommended_name": {
        "id": "DOID:0080116",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080116",
        "name": "mitochondrial complex III deficiency nuclear type 7",
        "description": "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0014356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "name": "mitochondrial complex III deficiency nuclear type 7",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene."
        },
        {
            "id": "MONDO:0014356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "name": "UQCC2 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "name": "mitochondrial complex III deficiency caused by mutation in UQCC2",
            "description": ""
        },
        {
            "id": "MONDO:0014356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "name": "MC3DN7",
            "description": ""
        },
        {
            "id": "MONDO:0014356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "name": "mitochondrial complex III deficiency, nuclear type 7",
            "description": ""
        },
        {
            "id": "MIM:615824",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615824",
            "name": "Mitochondrial complex III deficiency, nuclear type 7",
            "description": "Mitochondrial complex III deficiency, nuclear type 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080116"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080116",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080116",
            "categories": []
        },
        {
            "id": "MONDO:0014356",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014356",
            "categories": []
        },
        {
            "id": "MIM:615824",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615824",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBU7-1",
            "uniprot_ac": "Q6PBU7",
            "uniprot_id": "UQCC2_DANRE",
            "refseq_ac": "NP_957052",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uqcc2",
                    "type": "recommended"
                },
                {
                    "name": "mnf1",
                    "type": "synonym"
                },
                {
                    "name": "uqcc2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73238",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBU7-1",
            "evidence": [
                {
                    "id": "0080116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQY6-1",
            "uniprot_ac": "Q9CQY6",
            "uniprot_id": "UQCC2_MOUSE",
            "refseq_ac": "NP_080339",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinol-cytochrome c reductase complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex assembly factor 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcc2",
                    "type": "recommended"
                },
                {
                    "name": "2900010M23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cbp6",
                    "type": "synonym"
                },
                {
                    "name": "M19",
                    "type": "synonym"
                },
                {
                    "name": "Mnf1",
                    "type": "synonym"
                },
                {
                    "name": "Uqcc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQY6-1",
            "evidence": [
                {
                    "id": "0080116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BRT2-1",
            "uniprot_ac": "Q9BRT2",
            "uniprot_id": "UQCC2_HUMAN",
            "refseq_ac": "NP_115716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinol-cytochrome c reductase complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Breast cancer-associated protein SGA-81M",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "breast cancer-associated protein SGA-81M",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome B protein synthesis 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCC2",
                    "type": "recommended"
                },
                {
                    "name": "C6orf125",
                    "type": "synonym"
                },
                {
                    "name": "C6orf126",
                    "type": "synonym"
                },
                {
                    "name": "Cbp6",
                    "type": "synonym"
                },
                {
                    "name": "M19",
                    "type": "synonym"
                },
                {
                    "name": "MC3DN7",
                    "type": "synonym"
                },
                {
                    "name": "MNF1",
                    "type": "synonym"
                },
                {
                    "name": "UQCC2",
                    "type": "synonym"
                },
                {
                    "name": "bA6B20.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRT2-1",
            "evidence": [
                {
                    "id": "615824",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615824"
                },
                {
                    "id": "0080116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DFN3-1",
            "uniprot_ac": "B5DFN3",
            "uniprot_id": "UQCC2_RAT",
            "refseq_ac": "NP_001101998",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex assembly factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial nucleoid factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein M19",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex assembly factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcc2",
                    "type": "recommended"
                },
                {
                    "name": "M19",
                    "type": "synonym"
                },
                {
                    "name": "Mnf1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306917",
                    "type": "synonym"
                },
                {
                    "name": "Uqcc1-ps1",
                    "type": "synonym"
                },
                {
                    "name": "Uqcc2",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DFN3-1",
            "evidence": [
                {
                    "id": "0080116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080116"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EGA2-1",
            "uniprot_ac": "A0A6H2EGA2",
            "uniprot_id": "A0A6H2EGA2_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial nucleoid factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial protein M19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG46459",
                    "type": "recommended"
                },
                {
                    "name": "CG46459",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG46459",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EGA2-1",
            "evidence": [
                {
                    "id": "0080116",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080116"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080116"
}