{
    "disease_id": "DOID:0070238",
    "recommended_name": {
        "id": "DOID:0070238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070238",
        "name": "primary coenzyme Q10 deficiency 1",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23."
    },
    "synonyms": [
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "COQ10D1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "CoQ deficiency 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "CoQ10 deficiency, primary, 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "coenzyme Q deficiency 1",
            "description": ""
        },
        {
            "id": "DOID:0070238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070238",
            "name": "ubiquinone deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, 1",
            "description": "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene."
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "COQ2 coenzyme Q10 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency caused by mutation in COQ2",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "coenzyme Q10 deficiency, primary, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011829",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011829",
            "name": "COQ10D1",
            "description": ""
        },
        {
            "id": "MIM:607426",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607426",
            "name": "Coenzyme Q10 deficiency, primary, 1",
            "description": "Coenzyme Q10 deficiency, primary, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070238"
    ],
    "unlinked_id_list": []
}