{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "combined oxidative phosphorylation defect type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "C12orf65 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "combined oxidative phosphorylation deficiency type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "severe C12ORF65-related combined oxidative phosphorylation defect"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "severe C12ORF65-related COXPD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "COXPD7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "combined oxidative phosphorylation deficiency 7; COXPD7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013306", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013306", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in C12ORF65"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111487", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111487", 
            "name": "COXPD7"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111487", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111487", 
            "name": "severe C12ORF65-related COXPD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111487", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111487", 
            "name": "severe C12ORF65-related combined oxidative phosphorylation defect"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111487", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111487", 
        "name": "combined oxidative phosphorylation deficiency 7"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/613559", 
            "id": "613559", 
            "database": "MIM"
        }
    ]
}