{
    "disease_id": "DOID:0112088",
    "recommended_name": {
        "id": "DOID:0112088",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112088",
        "name": "nuclear type mitochondrial complex I deficiency 21",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NUBPL on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112088",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112088",
            "name": "MC1DN21",
            "description": ""
        },
        {
            "id": "MIM:618242",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618242",
            "name": "Mitochondrial complex I deficiency, nuclear type 21",
            "description": "Mitochondrial complex I deficiency, nuclear type 21"
        }
    ]
}