{
    "disease_id": "DOID:0111494", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "combined oxidative phosphorylation defect type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "combined oxidative phosphorylation deficiency 4; COXPD4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "COXPD4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TUFM"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "combined oxidative phosphorylation deficiency type 4"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012534", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012534", 
            "name": "TUFM combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111494", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111494", 
            "name": "COXPD4"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111494", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111494", 
        "name": "combined oxidative phosphorylation deficiency 4"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/610678", 
            "id": "610678", 
            "database": "MIM"
        }
    ]
}