{
    "disease_id": "DOID:0070502",
    "recommended_name": {
        "id": "DOID:0070502",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070502",
        "name": "mitochondrial complex IV deficiency nuclear type 17",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070502",
            "name": "MC4DN17",
            "description": ""
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "mitochondrial complex IV deficiency, nuclear type 17",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene."
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "MC4DN17",
            "description": ""
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "mitochondrial complex IV deficiency, nuclear type 17",
            "description": ""
        },
        {
            "id": "MIM:619061",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619061",
            "name": "Mitochondrial complex IV deficiency, nuclear type 17",
            "description": "Mitochondrial complex IV deficiency, nuclear type 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070502"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070502",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070502",
            "categories": []
        },
        {
            "id": "MONDO:0033652",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "categories": []
        },
        {
            "id": "MIM:619061",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619061",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5M9-1",
            "uniprot_ac": "B8A5M9",
            "uniprot_id": "B8A5M9_DANRE",
            "refseq_ac": "NP_001139091",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa8",
                    "type": "recommended"
                },
                {
                    "name": "apopt1",
                    "type": "synonym"
                },
                {
                    "name": "coa8",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-194h13.2",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5M9-1",
            "evidence": [
                {
                    "id": "0070502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQW7-1",
            "uniprot_ac": "Q9CQW7",
            "uniprot_id": "COA8_MOUSE",
            "refseq_ac": "NP_001156860",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 8",
                    "type": "recommended"
                },
                {
                    "name": "APOP-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoptogenic protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COA8",
                    "type": "synonym"
                },
                {
                    "name": "UPF0671 protein C14orf153 homolog",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic, mitochondrial 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 8 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa8",
                    "type": "recommended"
                },
                {
                    "name": "1700081D05Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810002N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Apop-1",
                    "type": "synonym"
                },
                {
                    "name": "Apop1",
                    "type": "synonym"
                },
                {
                    "name": "Apopt1",
                    "type": "synonym"
                },
                {
                    "name": "Coa8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQW7-1",
            "evidence": [
                {
                    "id": "0070502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IL0-1",
            "uniprot_ac": "Q96IL0",
            "uniprot_id": "COA8_HUMAN",
            "refseq_ac": "NP_001289582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 8",
                    "type": "recommended"
                },
                {
                    "name": "APOP-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoptogenic protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COA8",
                    "type": "synonym"
                },
                {
                    "name": "UPF0671 protein C14orf153",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 8 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA8",
                    "type": "recommended"
                },
                {
                    "name": "APOP1",
                    "type": "synonym"
                },
                {
                    "name": "APOPT1",
                    "type": "synonym"
                },
                {
                    "name": "APOP",
                    "type": "synonym"
                },
                {
                    "name": "C14orf153",
                    "type": "synonym"
                },
                {
                    "name": "COA8",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IL0-1",
            "evidence": [
                {
                    "id": "619061",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619061"
                },
                {
                    "id": "0070502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32Q90-1",
            "uniprot_ac": "Q32Q90",
            "uniprot_id": "COA8_RAT",
            "refseq_ac": "NP_001032858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly factor 8",
                    "type": "recommended"
                },
                {
                    "name": "APOP-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoptogenic protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COA8",
                    "type": "synonym"
                },
                {
                    "name": "UPF0671 protein C14orf153 homolog",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptogenic protein 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa8",
                    "type": "recommended"
                },
                {
                    "name": "APOP-1",
                    "type": "synonym"
                },
                {
                    "name": "Apop1",
                    "type": "synonym"
                },
                {
                    "name": "Apopt1",
                    "type": "synonym"
                },
                {
                    "name": "Coa8",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304719",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32Q90-1",
            "evidence": [
                {
                    "id": "0070502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W549-1",
            "uniprot_ac": "Q9W549",
            "uniprot_id": "COA8_DROME",
            "refseq_ac": "NP_001259147",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "COA8 family protein CG14806, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "APOPT1 family protein CG14806, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "CG14806-PB",
                    "type": "synonym"
                },
                {
                    "name": "COA8",
                    "type": "synonym"
                },
                {
                    "name": "Coa8-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase assembly factor 8",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 8, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa8",
                    "type": "recommended"
                },
                {
                    "name": "coa8",
                    "type": "recommended"
                },
                {
                    "name": "Apop1",
                    "type": "synonym"
                },
                {
                    "name": "CG14806",
                    "type": "synonym"
                },
                {
                    "name": "Coa8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14806",
                    "type": "synonym"
                },
                {
                    "name": "dCOA8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W549-1",
            "evidence": [
                {
                    "id": "0070502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070502"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070502"
}