{
    "disease_id": "DOID:0111501", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014781", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014781", 
            "name": "TXN2 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014781", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014781", 
            "name": "combined oxidative phosphorylation deficiency 29; COXPD29"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014781", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014781", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in TXN2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014781", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014781", 
            "name": "COXPD29"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014781", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014781", 
            "name": "combined oxidative phosphorylation deficiency type 29"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111501", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111501", 
            "name": "COXPD29"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111501", 
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TXN2 on chromosome 22q12.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111501", 
        "name": "combined oxidative phosphorylation deficiency 29"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616811", 
            "id": "616811", 
            "database": "MIM"
        }
    ]
}
