{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2; MC5DN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "TMEM70 defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "3-MGCA type IV (3-MGCA-4) (formerly)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "MC5DN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "TMEM70-related mitochondrial encephalo-cardio-myopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013546", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013546", 
            "name": "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060331", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060331", 
            "name": "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060331", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060331", 
            "name": "MC5DN2"
        }, 
        {
            "url": "https://www.omim.org/entry/614052", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614052", 
            "name": "Mitochondrial complex V deficiency, nuclear type 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060331", 
        "description": "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060331", 
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614052", 
            "id": "614052", 
            "database": "MIM"
        }
    ]
}