{
    "disease_id": "DOID:0070239", 
    "synonyms": [
        {
            "url": "http://disease-ontology.org/term/DOID:0070239", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070239", 
            "name": "COQ10D2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070239", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070239", 
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070239", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070239", 
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070239", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070239", 
            "name": "coenzyme Q10 deficiency, primary, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "COQ10D2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "coenzyme Q10 deficiency, primary, 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "coenzyme Q10 deficiency, primary, 2; COQ10D2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013837", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013837", 
            "name": "coenzyme Q10 deficiency, primary, type 2"
        }, 
        {
            "url": "https://www.omim.org/entry/614651", 
            "description": "Coenzyme Q10 deficiency, primary, 2", 
            "resource": "MIM", 
            "id": "MIM:614651", 
            "name": "Coenzyme Q10 deficiency, primary, 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070239", 
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070239", 
        "name": "primary coenzyme Q10 deficiency 2"
    }
}