{
    "disease_id": "DOID:0070499",
    "recommended_name": {
        "id": "DOID:0070499",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070499",
        "name": "mitochondrial complex IV deficiency nuclear type 14",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070499",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070499",
            "name": "MC4DN14",
            "description": ""
        },
        {
            "id": "MONDO:0033649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033649",
            "name": "mitochondrial complex IV deficiency, nuclear type 14",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA3 gene."
        },
        {
            "id": "MONDO:0033649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033649",
            "name": "MC4DN14",
            "description": ""
        },
        {
            "id": "MONDO:0033649",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033649",
            "name": "mitochondrial complex IV deficiency, nuclear type 14",
            "description": ""
        },
        {
            "id": "MIM:619058",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619058",
            "name": "Mitochondrial complex IV deficiency, nuclear type 14",
            "description": "Mitochondrial complex IV deficiency, nuclear type 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070499"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070499",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070499",
            "categories": []
        },
        {
            "id": "MONDO:0033649",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033649",
            "categories": []
        },
        {
            "id": "MIM:619058",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619058",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8KB87-1",
            "uniprot_ac": "A8KB87",
            "uniprot_id": "COA3_DANRE",
            "refseq_ac": "",
            "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 3 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa3a",
                    "type": "recommended"
                },
                {
                    "name": "ccdc56",
                    "type": "synonym"
                },
                {
                    "name": "coa3",
                    "type": "synonym"
                },
                {
                    "name": "im:7163732",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171846",
                    "type": "synonym"
                }
            ],
            "record_id": "A8KB87-1",
            "evidence": [
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X1WFF5-1",
            "uniprot_ac": "X1WFF5",
            "uniprot_id": "X1WFF5_DANRE",
            "refseq_ac": "NP_001191179",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "cytochrome C oxidase assembly factor 3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coa3b",
                    "type": "recommended"
                },
                {
                    "name": "coa3b",
                    "type": "synonym"
                },
                {
                    "name": "fj17c03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj17c03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194167",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WFF5-1",
            "evidence": [
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2R6-1",
            "uniprot_ac": "Q9D2R6",
            "uniprot_id": "COA3_MOUSE",
            "refseq_ac": "NP_080894",
            "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 assembly factor 3 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 56",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 3 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein 3 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa3",
                    "type": "recommended"
                },
                {
                    "name": "1810033A19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc56",
                    "type": "synonym"
                },
                {
                    "name": "Coa3",
                    "type": "synonym"
                },
                {
                    "name": "D11Ertd99e",
                    "type": "synonym"
                },
                {
                    "name": "HSPC009",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D2R6-1",
            "evidence": [
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2R0-1",
            "uniprot_ac": "Q9Y2R0",
            "uniprot_id": "COA3_HUMAN",
            "refseq_ac": "NP_001035521",
            "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 3 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 56",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor 3 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein 3 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COA3",
                    "type": "recommended"
                },
                {
                    "name": "CCDC56",
                    "type": "synonym"
                },
                {
                    "name": "COA3",
                    "type": "synonym"
                },
                {
                    "name": "COX25",
                    "type": "synonym"
                },
                {
                    "name": "HSPC009",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN14",
                    "type": "synonym"
                },
                {
                    "name": "MITRAC12",
                    "type": "synonym"
                },
                {
                    "name": "hCOA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2R0-1",
            "evidence": [
                {
                    "id": "619058",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619058"
                },
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9I1-1",
            "uniprot_ac": "D3Z9I1",
            "uniprot_id": "D3Z9I1_RAT",
            "refseq_ac": "NP_001102517",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "coiled-coil domain containing 56",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 56",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coa3",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc56",
                    "type": "synonym"
                },
                {
                    "name": "Coa3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564337",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9I1-1",
            "evidence": [
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DKM0-1",
            "uniprot_ac": "P0DKM0",
            "uniprot_id": "COA3_DROME",
            "refseq_ac": "NP_996062",
            "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 3, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG42630-PA",
                    "type": "synonym"
                },
                {
                    "name": "CPuORF of FBgn0261381",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc56-PA",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain containing 56",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 56 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial transcription factor B1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc56",
                    "type": "recommended"
                },
                {
                    "name": "CCDC56",
                    "type": "synonym"
                },
                {
                    "name": "CG42630",
                    "type": "synonym"
                },
                {
                    "name": "CG7319",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc56",
                    "type": "synonym"
                },
                {
                    "name": "Coa3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42630",
                    "type": "synonym"
                },
                {
                    "name": "ccdc56",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DKM0-1",
            "evidence": [
                {
                    "id": "0070499",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070499"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070499"
}