{
    "disease_id": "DOID:0080113",
    "recommended_name": {
        "id": "DOID:0080113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080113",
        "name": "mitochondrial complex III deficiency nuclear type 4",
        "description": "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0014065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "name": "mitochondrial complex III deficiency nuclear type 4",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene."
        },
        {
            "id": "MONDO:0014065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "name": "UQCRQ mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "name": "mitochondrial complex III deficiency caused by mutation in UQCRQ",
            "description": ""
        },
        {
            "id": "MONDO:0014065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "name": "MC3DN4",
            "description": ""
        },
        {
            "id": "MONDO:0014065",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "name": "mitochondrial complex III deficiency, nuclear type 4",
            "description": ""
        },
        {
            "id": "MIM:615159",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615159",
            "name": "Mitochondrial complex III deficiency, nuclear type 4",
            "description": "Mitochondrial complex III deficiency, nuclear type 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080113",
            "categories": []
        },
        {
            "id": "MONDO:0014065",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014065",
            "categories": []
        },
        {
            "id": "MIM:615159",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615159",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QEJ5-1",
            "uniprot_ac": "F1QEJ5",
            "uniprot_id": "F1QEJ5_DANRE",
            "refseq_ac": "NP_001002495",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 8",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uqcrq",
                    "type": "recommended"
                },
                {
                    "name": "mg:bb03b10",
                    "type": "synonym"
                },
                {
                    "name": "uqcrq",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92848",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QEJ5-1",
            "evidence": [
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQ69-1",
            "uniprot_ac": "Q9CQ69",
            "uniprot_id": "QCR8_MOUSE",
            "refseq_ac": "NP_001313543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 8",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass ubiquinone-binding protein (Qpc-pending)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrq",
                    "type": "recommended"
                },
                {
                    "name": "1100001F06Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500040F11Rik",
                    "type": "synonym"
                },
                {
                    "name": "5830407L17Rik",
                    "type": "synonym"
                },
                {
                    "name": "9.5kDa",
                    "type": "synonym"
                },
                {
                    "name": "QP-C",
                    "type": "synonym"
                },
                {
                    "name": "Qpc",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrb",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrq",
                    "type": "synonym"
                },
                {
                    "name": "c1502",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQ69-1",
            "evidence": [
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14949-1",
            "uniprot_ac": "O14949",
            "uniprot_id": "QCR8_HUMAN",
            "refseq_ac": "NP_055217",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 8",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass ubiquinone-binding protein (9.5kD)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCRQ",
                    "type": "recommended"
                },
                {
                    "name": "MC3DN4",
                    "type": "synonym"
                },
                {
                    "name": "QCR8",
                    "type": "synonym"
                },
                {
                    "name": "QP-C",
                    "type": "synonym"
                },
                {
                    "name": "QPC",
                    "type": "synonym"
                },
                {
                    "name": "UQCR7",
                    "type": "synonym"
                },
                {
                    "name": "UQCRQ",
                    "type": "synonym"
                }
            ],
            "record_id": "O14949-1",
            "evidence": [
                {
                    "id": "615159",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615159"
                },
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08525-1",
            "uniprot_ac": "P08525",
            "uniprot_id": "QCR8_YEAST",
            "refseq_ac": "NP_012369",
            "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 b-c1 complex subunit 8, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 11 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol--cytochrome-c reductase subunit 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QCR8",
                    "type": "recommended"
                },
                {
                    "name": "COR5",
                    "type": "synonym"
                },
                {
                    "name": "J0526",
                    "type": "synonym"
                },
                {
                    "name": "QCR8",
                    "type": "synonym"
                }
            ],
            "record_id": "P08525-1",
            "evidence": [
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TQ16-1",
            "uniprot_ac": "Q7TQ16",
            "uniprot_id": "QCR8_RAT",
            "refseq_ac": "NP_001020305",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome b-c1 complex subunit 8",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "Low molecular mass ubiquinone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit VIII",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "low molecular mass ubiquinone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex 9.5 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrq",
                    "type": "recommended"
                },
                {
                    "name": "Qpc",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrq",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQ16-1",
            "evidence": [
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVH5-1",
            "uniprot_ac": "Q9VVH5",
            "uniprot_id": "Q9VVH5_DROME",
            "refseq_ac": "NP_001189124",
            "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 b-c1 complex subunit 8",
                    "type": "recommended"
                },
                {
                    "name": "CG7580-PB",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-Q-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase Ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase Ubiquinone-binding protein QP-C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase ubiquinone-binding protein, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-Q",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT13736",
                    "type": "synonym"
                },
                {
                    "name": "CG7580",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7580",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7580",
                    "type": "synonym"
                },
                {
                    "name": "Q9VVH5",
                    "type": "synonym"
                },
                {
                    "name": "UCRQ",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-Q",
                    "type": "synonym"
                },
                {
                    "name": "UQCR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVH5-1",
            "evidence": [
                {
                    "id": "0080113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080113"
}