{
    "disease_id": "DOID:0070506",
    "recommended_name": {
        "id": "DOID:0070506",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070506",
        "name": "mitochondrial complex IV deficiency nuclear type 21",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070506",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070506",
            "name": "MC4DN21",
            "description": ""
        },
        {
            "id": "MONDO:0033656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033656",
            "name": "mitochondrial complex IV deficiency, nuclear type 21",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COXFA4 gene."
        },
        {
            "id": "MONDO:0033656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033656",
            "name": "MC4DN21",
            "description": ""
        },
        {
            "id": "MONDO:0033656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033656",
            "name": "mitochondrial complex IV deficiency, nuclear type 21",
            "description": ""
        },
        {
            "id": "MIM:619065",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619065",
            "name": "Mitochondrial complex IV deficiency, nuclear type 21",
            "description": "Mitochondrial complex IV deficiency, nuclear type 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070506"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070506",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070506",
            "categories": []
        },
        {
            "id": "MONDO:0033656",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033656",
            "categories": []
        },
        {
            "id": "MIM:619065",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619065",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PBH5-1",
            "uniprot_ac": "Q6PBH5",
            "uniprot_id": "CXFA4_DANRE",
            "refseq_ac": "NP_998190",
            "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 subunit FA4",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase subunit A4",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA4 mitochondrial complex associated b",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit FA4",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coxfa4",
                    "type": "recommended"
                },
                {
                    "name": "coxfa4b",
                    "type": "synonym"
                },
                {
                    "name": "coxfa4",
                    "type": "synonym"
                },
                {
                    "name": "ndufa4b",
                    "type": "synonym"
                },
                {
                    "name": "ndufa4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73405",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBH5-1",
            "evidence": [
                {
                    "id": "0070506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070506"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62425-1",
            "uniprot_ac": "Q62425",
            "uniprot_id": "CXFA4_MOUSE",
            "refseq_ac": "NP_035016",
            "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 FA4",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa4, mitochondrial complex associated",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit FA4",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coxfa4",
                    "type": "recommended"
                },
                {
                    "name": "Coxfa4",
                    "type": "synonym"
                },
                {
                    "name": "MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "Ndufa4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62425-1",
            "evidence": [
                {
                    "id": "0070506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070506"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00483-1",
            "uniprot_ac": "O00483",
            "uniprot_id": "CXFA4_HUMAN",
            "refseq_ac": "NP_002480",
            "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 FA4",
                    "type": "recommended"
                },
                {
                    "name": "CI-MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "Complex I 9kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase MLRQ subunit",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA4 mitochondrial complex associated",
                    "type": "synonym"
                },
                {
                    "name": "complex I-MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit FA4",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit NDUFA4",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial respiratory chain associated factor 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial stress response 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COXFA4",
                    "type": "recommended"
                },
                {
                    "name": "CI-9k",
                    "type": "synonym"
                },
                {
                    "name": "CI-MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "COXFA4",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN21",
                    "type": "synonym"
                },
                {
                    "name": "MISTR1",
                    "type": "synonym"
                },
                {
                    "name": "MLRQ",
                    "type": "synonym"
                },
                {
                    "name": "MRCAF1",
                    "type": "synonym"
                },
                {
                    "name": "NDUFA4",
                    "type": "synonym"
                }
            ],
            "record_id": "O00483-1",
            "evidence": [
                {
                    "id": "619065",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619065"
                },
                {
                    "id": "0070506",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070506"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070506"
}