{
    "disease_id": "DOID:0080360",
    "recommended_name": {
        "id": "DOID:0080360",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080360",
        "name": "mitochondrial complex IV deficiency nuclear type 13",
        "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0080360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080360",
            "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4",
            "description": ""
        },
        {
            "id": "DOID:0080360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080360",
            "name": "MC4DN13",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",
            "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene."
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "COA6 fatal infantile encephalocardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in COA6",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "mitochondrial complex IV deficiency, nuclear type 13",
            "description": ""
        },
        {
            "id": "MONDO:0014668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "name": "CEMCOX4",
            "description": ""
        },
        {
            "id": "MIM:616501",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616501",
            "name": "Mitochondrial complex IV deficiency, nuclear type 13",
            "description": "Mitochondrial complex IV deficiency, nuclear type 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080360"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080360",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080360",
            "categories": []
        },
        {
            "id": "MONDO:0014668",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014668",
            "categories": []
        },
        {
            "id": "MIM:616501",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616501",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5J2-1",
            "uniprot_ac": "B8A5J2",
            "uniprot_id": "B8A5J2_DANRE",
            "refseq_ac": "NP_001314760",
            "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 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa6",
                    "type": "recommended"
                },
                {
                    "name": "coa6",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-258f14.5",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5J2-1",
            "evidence": [
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGD8-1",
            "uniprot_ac": "Q8BGD8",
            "uniprot_id": "COA6_MOUSE",
            "refseq_ac": "NP_778152",
            "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 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa6",
                    "type": "recommended"
                },
                {
                    "name": "1810063B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coa6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGD8-1",
            "evidence": [
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JTJ3-1",
            "uniprot_ac": "Q5JTJ3",
            "uniprot_id": "COA6_HUMAN",
            "refseq_ac": "NP_001193570",
            "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 assembly factor 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 6 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 6 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA6",
                    "type": "recommended"
                },
                {
                    "name": "C1orf31",
                    "type": "synonym"
                },
                {
                    "name": "CEMCOX4",
                    "type": "synonym"
                },
                {
                    "name": "COA6",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JTJ3-1",
            "evidence": [
                {
                    "id": "616501",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616501"
                },
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3E846-1",
            "uniprot_ac": "Q3E846",
            "uniprot_id": "COA6_YEAST",
            "refseq_ac": "NP_013972",
            "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 assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "Coa6p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA6",
                    "type": "recommended"
                },
                {
                    "name": "COA6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3E846-1",
            "evidence": [
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE58-1",
            "uniprot_ac": "A0ABK0LE58",
            "uniprot_id": "A0ABK0LE58_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 assembly factor 6 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa6",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LE58-1",
            "evidence": [
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z107-1",
            "uniprot_ac": "B7Z107",
            "uniprot_id": "B7Z107_DROME",
            "refseq_ac": "NP_001138136",
            "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 assembly factor 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG42376-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG42376",
                    "type": "recommended"
                },
                {
                    "name": "CG42376",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42376",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42376",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z107-1",
            "evidence": [
                {
                    "id": "0080360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080360"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080360"
}