{
    "disease_id": "DOID:0111496", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "combined oxidative phosphorylation defect type 17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "COXPD17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "combined oxidative phosphorylation deficiency 17; COXPD17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "ELAC2 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "combined oxidative phosphorylation deficiency type 17"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014190", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014190", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in ELAC2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111496", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111496", 
            "name": "COXPD17"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111496", 
        "description": "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111496", 
        "name": "combined oxidative phosphorylation deficiency 17"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111496#disease-associations", 
            "id": "0111496", 
            "database": "Alliance of Genome Resources"
        }
    ]
}