{
    "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": []
}