{
    "disease_id": "DOID:0080111",
    "recommended_name": {
        "id": "DOID:0080111",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080111",
        "name": "mitochondrial complex III deficiency nuclear type 1",
        "description": "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35."
    },
    "synonyms": [
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency nuclear type 1",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene."
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "BCS1L mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency caused by mutation in BCS1L",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "Complex 3 mitochondrial respiratory chain deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "MC3DN1",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0007415",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "name": "mitochondrial complex III deficiency, nuclear type 1",
            "description": ""
        },
        {
            "id": "MIM:124000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124000",
            "name": "Mitochondrial complex III deficiency, nuclear type 1",
            "description": "Mitochondrial complex III deficiency, nuclear type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080111"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080111",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080111",
            "categories": []
        },
        {
            "id": "MONDO:0007415",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007415",
            "categories": []
        },
        {
            "id": "MIM:124000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/124000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZV60-1",
            "uniprot_ac": "Q7ZV60",
            "uniprot_id": "BCS1_DANRE",
            "refseq_ac": "NP_957476",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BC1 (ubiquinol-cytochrome c reductase) synthesis-like",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcs1l",
                    "type": "recommended"
                },
                {
                    "name": "bcs1l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56205",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZV60-1",
            "evidence": [
                {
                    "id": "0080111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CZP5-1",
            "uniprot_ac": "Q9CZP5",
            "uniprot_id": "BCS1_MOUSE",
            "refseq_ac": "NP_001292581",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcs1l",
                    "type": "recommended"
                },
                {
                    "name": "9130022O19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CZP5-1",
            "evidence": [
                {
                    "id": "0080111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y276-1",
            "uniprot_ac": "Q9Y276",
            "uniprot_id": "BCS1_HUMAN",
            "refseq_ac": "NP_001073335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "BC1 (ubiquinol-cytochrome c reductase) synthesis-like",
                    "type": "synonym"
                },
                {
                    "name": "BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone",
                    "type": "synonym"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial chaperone BCS1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial complex III assembly",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCS1L",
                    "type": "recommended"
                },
                {
                    "name": "BCS1L",
                    "type": "synonym"
                },
                {
                    "name": "BCS1",
                    "type": "synonym"
                },
                {
                    "name": "BCS",
                    "type": "synonym"
                },
                {
                    "name": "BJS",
                    "type": "synonym"
                },
                {
                    "name": "FLNMS",
                    "type": "synonym"
                },
                {
                    "name": "GRACILE",
                    "type": "synonym"
                },
                {
                    "name": "Hs.6719",
                    "type": "synonym"
                },
                {
                    "name": "MC3DN1",
                    "type": "synonym"
                },
                {
                    "name": "PTD",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS1",
                    "type": "synonym"
                },
                {
                    "name": "h-BCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y276-1",
            "evidence": [
                {
                    "id": "124000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/124000"
                },
                {
                    "id": "0080111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32839-1",
            "uniprot_ac": "P32839",
            "uniprot_id": "BCS1_YEAST",
            "refseq_ac": "NP_010663",
            "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": "Mitochondrial chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional AAA family ATPase chaperone/translocase BCS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BCS1",
                    "type": "recommended"
                },
                {
                    "name": "BCS1",
                    "type": "synonym"
                },
                {
                    "name": "D9481.17",
                    "type": "synonym"
                }
            ],
            "record_id": "P32839-1",
            "evidence": [
                {
                    "id": "0080111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080111"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL22-1",
            "uniprot_ac": "Q9VL22",
            "uniprot_id": "Q9VL22_DROME",
            "refseq_ac": "NP_609358",
            "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 chaperone BCS1",
                    "type": "recommended"
                },
                {
                    "name": "BCS1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1 chaperone, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Bcs1-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG4908-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bcs1",
                    "type": "recommended"
                },
                {
                    "name": "Bcs1",
                    "type": "synonym"
                },
                {
                    "name": "CG4908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4908",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4908",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL22-1",
            "evidence": [
                {
                    "id": "0080111",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080111"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080111"
}