{
    "disease_id": "DOID:0060332",
    "recommended_name": {
        "id": "DOID:0060332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060332",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3",
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060332",
            "name": "MC5DN3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3",
            "description": "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene."
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "MC5DN3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013547",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013547",
            "name": "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E",
            "description": ""
        },
        {
            "id": "MIM:614053",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614053",
            "name": "Mitochondrial complex V deficiency, nuclear type 3",
            "description": "Mitochondrial complex V deficiency, nuclear type 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060332"
    ],
    "unlinked_id_list": []
}