{
    "disease_id": "DOID:0070242", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013840", 
            "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013840", 
            "name": "COQ10D5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013840", 
            "name": "coenzyme Q10 deficiency, primary, 5; COQ10D5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013840", 
            "name": "coenzyme Q10 deficiency, primary, type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013840", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013840", 
            "name": "coenzyme Q10 deficiency, primary, 5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070242", 
            "name": "COQ10D5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070242", 
            "name": "coenzyme Q10 deficiency, primary, 5"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070242", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070242", 
            "name": "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
        }, 
        {
            "url": "https://www.omim.org/entry/614654", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614654", 
            "name": "Coenzyme Q10 deficiency, primary, 5"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070242", 
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070242", 
        "name": "primary coenzyme Q10 deficiency 5"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614654", 
            "id": "614654", 
            "database": "MIM"
        }
    ]
}