{
    "disease_id": "DOID:0070503",
    "recommended_name": {
        "id": "DOID:0070503",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070503",
        "name": "mitochondrial complex IV deficiency nuclear type 18",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070503",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070503",
            "name": "MC4DN18",
            "description": ""
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "mitochondrial complex 4 deficiency, nuclear type 18",
            "description": ""
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "MC4DN18",
            "description": ""
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "mitochondrial complex IV deficiency, nuclear type 18",
            "description": ""
        },
        {
            "id": "MIM:619062",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619062",
            "name": "Mitochondrial complex IV deficiency, nuclear type 18",
            "description": "Mitochondrial complex IV deficiency, nuclear type 18"
        }
    ]
}