{
    "disease_id": "DOID:0080114",
    "recommended_name": {
        "id": "DOID:0080114",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080114",
        "name": "mitochondrial complex III deficiency nuclear type 5",
        "description": "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "name": "mitochondrial complex III deficiency nuclear type 5",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene."
        },
        {
            "id": "MONDO:0014066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "name": "UQCRC2 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "name": "mitochondrial complex III deficiency caused by mutation in UQCRC2",
            "description": ""
        },
        {
            "id": "MONDO:0014066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "name": "MC3DN5",
            "description": ""
        },
        {
            "id": "MONDO:0014066",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "name": "mitochondrial complex III deficiency, nuclear type 5",
            "description": ""
        },
        {
            "id": "MIM:615160",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615160",
            "name": "Mitochondrial complex III deficiency, nuclear type 5",
            "description": "Mitochondrial complex III deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080114"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080114",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080114",
            "categories": []
        },
        {
            "id": "MONDO:0014066",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014066",
            "categories": []
        },
        {
            "id": "MIM:615160",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615160",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJE0-1",
            "uniprot_ac": "F1QJE0",
            "uniprot_id": "F1QJE0_DANRE",
            "refseq_ac": "NP_001002657",
            "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 core protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein 2a",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein IIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uqcrc2a",
                    "type": "recommended"
                },
                {
                    "name": "fb33d01",
                    "type": "synonym"
                },
                {
                    "name": "fc43c05",
                    "type": "synonym"
                },
                {
                    "name": "uqcrc2a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb33d01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc43c05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92453",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJE0-1",
            "evidence": [
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB77-1",
            "uniprot_ac": "Q9DB77",
            "uniprot_id": "QCR2_MOUSE",
            "refseq_ac": "NP_080175",
            "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 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "core protein II",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc2",
                    "type": "recommended"
                },
                {
                    "name": "1500004O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Uqcrc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB77-1",
            "evidence": [
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22695-1",
            "uniprot_ac": "P22695",
            "uniprot_id": "QCR2_HUMAN",
            "refseq_ac": "NP_003357",
            "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 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome bc-1 complex core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCRC2",
                    "type": "recommended"
                },
                {
                    "name": "MC3DN5",
                    "type": "synonym"
                },
                {
                    "name": "QCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCRC2",
                    "type": "synonym"
                }
            ],
            "record_id": "P22695-1",
            "evidence": [
                {
                    "id": "615160",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615160"
                },
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07257-1",
            "uniprot_ac": "P07257",
            "uniprot_id": "QCR2_YEAST",
            "refseq_ac": "NP_015517",
            "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 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol--cytochrome-c reductase subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "QCR2",
                    "type": "recommended"
                },
                {
                    "name": "COR2",
                    "type": "synonym"
                },
                {
                    "name": "P9677.6",
                    "type": "synonym"
                },
                {
                    "name": "QCR2",
                    "type": "synonym"
                },
                {
                    "name": "UCR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07257-1",
            "evidence": [
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32551-1",
            "uniprot_ac": "P32551",
            "uniprot_id": "QCR2_RAT",
            "refseq_ac": "NP_001006971",
            "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 2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Core protein II",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "complex III subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "core protein II",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome b-c1 complex subunit 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome C reductase complex core protein 2, mitochondrial precursor (Complex III subunit II)",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase core protein II",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome-c reductase complex core protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uqcrc2",
                    "type": "recommended"
                },
                {
                    "name": "Uqcrc2",
                    "type": "synonym"
                }
            ],
            "record_id": "P32551-1",
            "evidence": [
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV75-1",
            "uniprot_ac": "Q9VV75",
            "uniprot_id": "Q9VV75_DROME",
            "refseq_ac": "NP_001261955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "BEST:GH10978",
                    "type": "synonym"
                },
                {
                    "name": "CG4169-PB",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome C reductase complex core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c oxidoreductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinol-cytochrome c reductase core protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinol-cytochrome c reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UQCR-C2",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH10978",
                    "type": "synonym"
                },
                {
                    "name": "CG 4169",
                    "type": "synonym"
                },
                {
                    "name": "CG4169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4169",
                    "type": "synonym"
                },
                {
                    "name": "UCR2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-C2",
                    "type": "synonym"
                },
                {
                    "name": "UQCR-cp2",
                    "type": "synonym"
                },
                {
                    "name": "UQCRC2",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey245",
                    "type": "synonym"
                },
                {
                    "name": "dUQCRC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV75-1",
            "evidence": [
                {
                    "id": "0080114",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080114"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080114"
}