{
    "disease_id": "DOID:0060332", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013547", 
            "name": "MC5DN3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060332", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060332", 
            "name": "MC5DN3"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060332", 
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060332", 
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060332#disease-associations", 
            "id": "0060332", 
            "database": "Alliance of Genome Resources"
        }
    ]
}