{
    "disease_id": "DOID:0070501",
    "recommended_name": {
        "id": "DOID:0070501",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070501",
        "name": "mitochondrial complex IV deficiency nuclear type 16",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070501",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070501",
            "name": "MC4DN16",
            "description": ""
        },
        {
            "id": "MONDO:0033651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033651",
            "name": "mitochondrial complex IV deficiency, nuclear type 16",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX4I1 gene."
        },
        {
            "id": "MONDO:0033651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033651",
            "name": "MC4DN16",
            "description": ""
        },
        {
            "id": "MONDO:0033651",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033651",
            "name": "mitochondrial complex IV deficiency, nuclear type 16",
            "description": ""
        },
        {
            "id": "MIM:619060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619060",
            "name": "Mitochondrial complex IV deficiency, nuclear type 16",
            "description": "Mitochondrial complex IV deficiency, nuclear type 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070501"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070501",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070501",
            "categories": []
        },
        {
            "id": "MONDO:0033651",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033651",
            "categories": []
        },
        {
            "id": "MIM:619060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P19783-1",
            "uniprot_ac": "P19783",
            "uniprot_id": "COX41_MOUSE",
            "refseq_ac": "NP_001280488",
            "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 4 isoform 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX IV-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit IV isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit IVa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox4i1",
                    "type": "recommended"
                },
                {
                    "name": "COX IV-1",
                    "type": "synonym"
                },
                {
                    "name": "COXIV",
                    "type": "synonym"
                },
                {
                    "name": "COX",
                    "type": "synonym"
                },
                {
                    "name": "Cox4a",
                    "type": "synonym"
                },
                {
                    "name": "Cox4i1",
                    "type": "synonym"
                },
                {
                    "name": "Cox4",
                    "type": "synonym"
                },
                {
                    "name": "Coxiv",
                    "type": "synonym"
                },
                {
                    "name": "IV-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P19783-1",
            "evidence": [
                {
                    "id": "0070501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13073-1",
            "uniprot_ac": "P13073",
            "uniprot_id": "COX41_HUMAN",
            "refseq_ac": "NP_001305715",
            "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 4 isoform 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX IV-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit IV isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX4I1",
                    "type": "recommended"
                },
                {
                    "name": "COX IV-1",
                    "type": "synonym"
                },
                {
                    "name": "COX4-1",
                    "type": "synonym"
                },
                {
                    "name": "COX4I1",
                    "type": "synonym"
                },
                {
                    "name": "COX4",
                    "type": "synonym"
                },
                {
                    "name": "COXIV-1",
                    "type": "synonym"
                },
                {
                    "name": "COXIV",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN16",
                    "type": "synonym"
                }
            ],
            "record_id": "P13073-1",
            "evidence": [
                {
                    "id": "619060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619060"
                },
                {
                    "id": "0070501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00424-1",
            "uniprot_ac": "P00424",
            "uniprot_id": "COX5A_YEAST",
            "refseq_ac": "NP_014346",
            "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 subunit 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX5A",
                    "type": "recommended"
                },
                {
                    "name": "COX5A",
                    "type": "synonym"
                },
                {
                    "name": "N2474",
                    "type": "synonym"
                },
                {
                    "name": "YNL2474W",
                    "type": "synonym"
                }
            ],
            "record_id": "P00424-1",
            "evidence": [
                {
                    "id": "0070501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00425-1",
            "uniprot_ac": "P00425",
            "uniprot_id": "COX5B_YEAST",
            "refseq_ac": "NP_012155",
            "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 subunit 5B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Vb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Vb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX5B",
                    "type": "recommended"
                },
                {
                    "name": "COX5B",
                    "type": "synonym"
                }
            ],
            "record_id": "P00425-1",
            "evidence": [
                {
                    "id": "0070501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070501"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10888-1",
            "uniprot_ac": "P10888",
            "uniprot_id": "COX41_RAT",
            "refseq_ac": "NP_058898",
            "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 subunit 4 isoform 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX IV-1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit IV isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 4 isoform 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit 4a",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit IVa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox4i1",
                    "type": "recommended"
                },
                {
                    "name": "Cox4a",
                    "type": "synonym"
                },
                {
                    "name": "Cox4i1",
                    "type": "synonym"
                },
                {
                    "name": "Cox4",
                    "type": "synonym"
                }
            ],
            "record_id": "P10888-1",
            "evidence": [
                {
                    "id": "0070501",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070501"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070501"
}