{
    "disease_id": "DOID:0070243",
    "recommended_name": {
        "id": "DOID:0070243",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070243",
        "name": "primary coenzyme Q10 deficiency 6",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070243",
            "name": "COQ10D6",
            "description": ""
        },
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070243",
            "name": "coenzyme Q10 deficiency, primary, 6",
            "description": ""
        },
        {
            "id": "DOID:0070243",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070243",
            "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "familial steroid-resistant nephrotic syndrome with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "COQ10D6",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "coenzyme Q10 deficiency, primary, 6; COQ10D6",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "coenzyme Q10 deficiency, primary, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013836",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013836",
            "name": "coenzyme Q10 deficiency, primary, 6",
            "description": ""
        },
        {
            "id": "MIM:614650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614650",
            "name": "Coenzyme Q10 deficiency, primary, 6",
            "description": "Coenzyme Q10 deficiency, primary, 6"
        }
    ]
}