{
    "disease_id": "DOID:0060333", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "ATP5F1A mitochondrial complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "MC5DN4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; MC5DN4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "mitochondrial complex deficiency caused by mutation in ATP5F1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5A1 type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014091", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014091", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060333", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060333", 
            "name": "MC5DN4"
        }, 
        {
            "url": "https://www.omim.org/entry/615228", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:615228", 
            "name": "Mitochondrial complex V deficiency, nuclear type 4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060333", 
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060333", 
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/615228", 
            "id": "615228", 
            "database": "MIM"
        }
    ]
}
