{
    "disease_id": "DOID:0080112",
    "recommended_name": {
        "id": "DOID:0080112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080112",
        "name": "mitochondrial complex III deficiency nuclear type 3",
        "description": "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "name": "mitochondrial complex III deficiency nuclear type 3",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene."
        },
        {
            "id": "MONDO:0014064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "name": "UQCRB mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "name": "mitochondrial complex III deficiency caused by mutation in UQCRB",
            "description": ""
        },
        {
            "id": "MONDO:0014064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "name": "MC3DN3",
            "description": ""
        },
        {
            "id": "MONDO:0014064",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "name": "mitochondrial complex III deficiency, nuclear type 3",
            "description": ""
        },
        {
            "id": "MIM:615158",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615158",
            "name": "Mitochondrial complex III deficiency, nuclear type 3",
            "description": "Mitochondrial complex III deficiency, nuclear type 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080112",
            "categories": []
        },
        {
            "id": "MONDO:0014064",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014064",
            "categories": []
        },
        {
            "id": "MIM:615158",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615158",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D855-1",
            "uniprot_ac": "Q9D855",
            "uniprot_id": "QCR7_MOUSE",
            "refseq_ac": "",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 14 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrb",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9D855-1",
            "evidence": [
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14927-1",
            "uniprot_ac": "P14927",
            "uniprot_id": "QCR7_HUMAN",
            "refseq_ac": "NP_001186904",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "QP-C",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase complex 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 7 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ubiquinone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase complex 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase, complex III subunit VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCRB",
                    "type": "recommended"
                },
                {
                    "name": "MC3DN3",
                    "type": "synonym"
                },
                {
                    "name": "QCR7",
                    "type": "synonym"
                },
                {
                    "name": "QP-C",
                    "type": "synonym"
                },
                {
                    "name": "QPC",
                    "type": "synonym"
                },
                {
                    "name": "UQBC",
                    "type": "synonym"
                },
                {
                    "name": "UQBP",
                    "type": "synonym"
                },
                {
                    "name": "UQCR6",
                    "type": "synonym"
                },
                {
                    "name": "UQCRB",
                    "type": "synonym"
                },
                {
                    "name": "UQPC",
                    "type": "synonym"
                }
            ],
            "record_id": "P14927-1",
            "evidence": [
                {
                    "id": "615158",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615158"
                },
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00128-1",
            "uniprot_ac": "P00128",
            "uniprot_id": "QCR7_YEAST",
            "refseq_ac": "NP_010818",
            "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 7, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "Complex III subunit VII",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase subunit 7",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol--cytochrome-c reductase subunit 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QCR7",
                    "type": "recommended"
                },
                {
                    "name": "COR4",
                    "type": "synonym"
                },
                {
                    "name": "CRO1",
                    "type": "synonym"
                },
                {
                    "name": "D9719.32",
                    "type": "synonym"
                },
                {
                    "name": "QCR7",
                    "type": "synonym"
                },
                {
                    "name": "UCR7",
                    "type": "synonym"
                }
            ],
            "record_id": "P00128-1",
            "evidence": [
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RYS2-1",
            "uniprot_ac": "B2RYS2",
            "uniprot_id": "B2RYS2_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": "Cytochrome b-c1 complex subunit 7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrb",
                    "type": "recommended"
                },
                {
                    "name": "Uqcrbl1",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RYS2-1",
            "evidence": [
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAW7-1",
            "uniprot_ac": "Q9VAW7",
            "uniprot_id": "Q9VAW7_DROME",
            "refseq_ac": "NP_651614",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "CG17856-PA",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-14L-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase 14 kDa subunit-like",
                    "type": "synonym"
                },
                {
                    "name": "complex III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-14L",
                    "type": "recommended"
                },
                {
                    "name": "CG17856",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17856",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17856",
                    "type": "synonym"
                },
                {
                    "name": "UCR6",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-14L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAW7-1",
            "evidence": [
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXI6-1",
            "uniprot_ac": "Q9VXI6",
            "uniprot_id": "Q9VXI6_DROME",
            "refseq_ac": "NP_573110",
            "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 7",
                    "type": "recommended"
                },
                {
                    "name": "CG3560-PA",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-14-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase 14 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase 14 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase 14 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-14",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH44664",
                    "type": "synonym"
                },
                {
                    "name": "CG3560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3560",
                    "type": "synonym"
                },
                {
                    "name": "Q9VXI6",
                    "type": "synonym"
                },
                {
                    "name": "UCR6",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-14",
                    "type": "synonym"
                },
                {
                    "name": "Ucrh 14KDa",
                    "type": "synonym"
                },
                {
                    "name": "Ucrh",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey167",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXI6-1",
            "evidence": [
                {
                    "id": "0080112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080112"
}