{
    "disease_id": "DOID:0070239",
    "recommended_name": {
        "id": "DOID:0070239",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070239",
        "name": "primary coenzyme Q10 deficiency 2",
        "description": "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "COQ10D2",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "coenzyme Q10 deficiency, primary, 2",
            "description": ""
        },
        {
            "id": "DOID:0070239",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070239",
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
            "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."
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "coenzyme Q10 deficiency, primary, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "COQ10D2",
            "description": ""
        },
        {
            "id": "MONDO:0013837",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013837",
            "name": "coenzyme Q10 deficiency, primary, 2",
            "description": ""
        },
        {
            "id": "MIM:614651",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614651",
            "name": "Coenzyme Q10 deficiency, primary, 2",
            "description": "Coenzyme Q10 deficiency, primary, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070239"
    ],
    "unlinked_id_list": []
}