{
    "disease_id": "DOID:0070494",
    "recommended_name": {
        "id": "DOID:0070494",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070494",
        "name": "mitochondrial complex IV deficiency nuclear type 7",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12."
    },
    "synonyms": [
        {
            "id": "DOID:0070494",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070494",
            "name": "MC4DN7",
            "description": ""
        },
        {
            "id": "MONDO:0033637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033637",
            "name": "mitochondrial complex IV deficiency, nuclear type 7",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6B1 gene."
        },
        {
            "id": "MONDO:0033637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033637",
            "name": "MC4DN7",
            "description": ""
        },
        {
            "id": "MONDO:0033637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033637",
            "name": "mitochondrial complex IV deficiency, nuclear type 7",
            "description": ""
        },
        {
            "id": "MIM:619051",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619051",
            "name": "Mitochondrial complex IV deficiency, nuclear type 7",
            "description": "Mitochondrial complex IV deficiency, nuclear type 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070494"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070494",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070494",
            "categories": []
        },
        {
            "id": "MONDO:0033637",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033637",
            "categories": []
        },
        {
            "id": "MIM:619051",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619051",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56391-1",
            "uniprot_ac": "P56391",
            "uniprot_id": "CX6B1_MOUSE",
            "refseq_ac": "NP_079904",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX VIb-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit VIb polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6b1",
                    "type": "recommended"
                },
                {
                    "name": "2010000G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "COX VIb-1",
                    "type": "synonym"
                },
                {
                    "name": "Cox6b1",
                    "type": "synonym"
                },
                {
                    "name": "Cox6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P56391-1",
            "evidence": [
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14854-1",
            "uniprot_ac": "P14854",
            "uniprot_id": "CX6B1_HUMAN",
            "refseq_ac": "NP_001854",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX VIb-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIb isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX6B1",
                    "type": "synonym"
                },
                {
                    "name": "COX6B",
                    "type": "synonym"
                },
                {
                    "name": "COXG",
                    "type": "synonym"
                },
                {
                    "name": "COXVIb1",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN7",
                    "type": "synonym"
                }
            ],
            "record_id": "P14854-1",
            "evidence": [
                {
                    "id": "619051",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619051"
                },
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01519-1",
            "uniprot_ac": "Q01519",
            "uniprot_id": "COX12_YEAST",
            "refseq_ac": "NP_013139",
            "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 c oxidase subunit 12, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX12",
                    "type": "recommended"
                },
                {
                    "name": "COX12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01519-1",
            "evidence": [
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P80430-1",
            "uniprot_ac": "P80430",
            "uniprot_id": "CX6B1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6B1",
                    "type": "recommended"
                },
                {
                    "name": "COX VIb-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIb isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6b1",
                    "type": "recommended"
                },
                {
                    "name": "Cox6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P80430-1",
            "evidence": [
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41350-1",
            "uniprot_ac": "P41350",
            "uniprot_id": "CAV1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Caveolin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cav1",
                    "type": "recommended"
                },
                {
                    "name": "Cav",
                    "type": "synonym"
                }
            ],
            "record_id": "P41350-1",
            "evidence": [
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWD1-1",
            "uniprot_ac": "Q9VWD1",
            "uniprot_id": "Q9VWD1_DROME",
            "refseq_ac": "NP_728294",
            "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 c oxidase subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG14235-PA",
                    "type": "synonym"
                },
                {
                    "name": "COX6B-PA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase VIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6B, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunitVIb",
                    "type": "synonym"
                },
                {
                    "name": "subunit VIb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6B",
                    "type": "recommended"
                },
                {
                    "name": "CG14235",
                    "type": "synonym"
                },
                {
                    "name": "COX6B",
                    "type": "synonym"
                },
                {
                    "name": "COXG",
                    "type": "synonym"
                },
                {
                    "name": "CcoVIb",
                    "type": "synonym"
                },
                {
                    "name": "CoVIb",
                    "type": "synonym"
                },
                {
                    "name": "Cox6b",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14235",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14235",
                    "type": "synonym"
                },
                {
                    "name": "Q8IQW2",
                    "type": "synonym"
                },
                {
                    "name": "VIb",
                    "type": "synonym"
                },
                {
                    "name": "vib",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWD1-1",
            "evidence": [
                {
                    "id": "0070494",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070494"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070494"
}