{
    "disease_id": "DOID:0112138",
    "recommended_name": {
        "id": "DOID:0112138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112138",
        "name": "primary coenzyme Q10 deficiency 9",
        "description": "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0112138",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112138",
            "name": "COQ10D9",
            "description": ""
        },
        {
            "id": "MONDO:0033615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033615",
            "name": "coenzyme q10 deficiency, primary, 9",
            "description": ""
        },
        {
            "id": "MONDO:0033615",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033615",
            "name": "COQ10D9",
            "description": ""
        },
        {
            "id": "MIM:619028",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619028",
            "name": "Coenzyme Q10 deficiency, primary, 9",
            "description": "Coenzyme Q10 deficiency, primary, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112138"
    ],
    "unlinked_id_list": []
}