{
    "disease_id": "DOID:0070502",
    "recommended_name": {
        "id": "DOID:0070502",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070502",
        "name": "mitochondrial complex IV deficiency nuclear type 17",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070502",
            "name": "MC4DN17",
            "description": ""
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "mitochondrial complex IV deficiency, nuclear type 17",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COA8 gene."
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "MC4DN17",
            "description": ""
        },
        {
            "id": "MONDO:0033652",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033652",
            "name": "mitochondrial complex IV deficiency, nuclear type 17",
            "description": ""
        },
        {
            "id": "MIM:619061",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619061",
            "name": "Mitochondrial complex IV deficiency, nuclear type 17",
            "description": "Mitochondrial complex IV deficiency, nuclear type 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070502"
    ],
    "unlinked_id_list": []
}