{
    "disease_id": "DOID:0112099",
    "recommended_name": {
        "id": "DOID:0112099",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112099",
        "name": "nuclear type mitochondrial complex I deficiency 12",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in NDUFA1 on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0112099",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112099",
            "name": "MC1DN12",
            "description": ""
        },
        {
            "id": "MIM:301020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301020",
            "name": "Mitochondrial complex I deficiency, nuclear type 12",
            "description": "Mitochondrial complex I deficiency, nuclear type 12"
        }
    ]
}