{
    "disease_id": "DOID:0080359",
    "recommended_name": {
        "id": "DOID:0080359",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080359",
        "name": "mitochondrial complex IV deficiency nuclear type 9",
        "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080359",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080359",
            "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3",
            "description": ""
        },
        {
            "id": "DOID:0080359",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080359",
            "name": "MC4DN9",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
            "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene."
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "COA5 fatal infantile encephalocardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in COA5",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "mitochondrial complex IV, deficiency, nuclear type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "name": "CEMCOX3",
            "description": ""
        },
        {
            "id": "MIM:616500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616500",
            "name": "Mitochondrial complex IV deficiency, nuclear type 9",
            "description": "Mitochondrial complex IV deficiency, nuclear type 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080359"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080359",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080359",
            "categories": []
        },
        {
            "id": "MONDO:0014667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014667",
            "categories": []
        },
        {
            "id": "MIM:616500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q0P451-1",
            "uniprot_ac": "Q0P451",
            "uniprot_id": "COA5_DANRE",
            "refseq_ac": "NP_001154969",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa5",
                    "type": "recommended"
                },
                {
                    "name": "coa5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153408",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0P451-1",
            "evidence": [
                {
                    "id": "0080359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99M07-1",
            "uniprot_ac": "Q99M07",
            "uniprot_id": "COA5_MOUSE",
            "refseq_ac": "NP_932123",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa5",
                    "type": "recommended"
                },
                {
                    "name": "1700001A24Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330578E17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Coa5",
                    "type": "synonym"
                },
                {
                    "name": "Pet191",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99M07-1",
            "evidence": [
                {
                    "id": "0080359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WW8-1",
            "uniprot_ac": "Q86WW8",
            "uniprot_id": "COA5_HUMAN",
            "refseq_ac": "NP_001008216",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 5",
                    "type": "synonym"
                },
                {
                    "name": "protein C2orf64",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA5",
                    "type": "recommended"
                },
                {
                    "name": "6330578E17Rik",
                    "type": "synonym"
                },
                {
                    "name": "C2orf64",
                    "type": "synonym"
                },
                {
                    "name": "CEMCOX3",
                    "type": "synonym"
                },
                {
                    "name": "COA5",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN9",
                    "type": "synonym"
                },
                {
                    "name": "PET191",
                    "type": "synonym"
                },
                {
                    "name": "Pet191",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WW8-1",
            "evidence": [
                {
                    "id": "616500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616500"
                },
                {
                    "id": "0080359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02772-1",
            "uniprot_ac": "Q02772",
            "uniprot_id": "COA5_YEAST",
            "refseq_ac": "NP_012568",
            "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 PET191",
                    "type": "recommended"
                },
                {
                    "name": "Pet191p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PET191",
                    "type": "recommended"
                },
                {
                    "name": "J1604",
                    "type": "synonym"
                },
                {
                    "name": "PET191",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02772-1",
            "evidence": [
                {
                    "id": "0080359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080359"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LRY3-1",
            "uniprot_ac": "A0ABK0LRY3",
            "uniprot_id": "A0ABK0LRY3_RAT",
            "refseq_ac": "NP_001182417",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein LOC503252",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa5",
                    "type": "recommended"
                },
                {
                    "name": "Coa5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565095",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LRY3-1",
            "evidence": [
                {
                    "id": "0080359",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080359"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080359"
}