{
    "disease_id": "DOID:0111467", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "combined oxidative phosphorylation defect type 13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "combined oxidative phosphorylation deficiency 13; COXPD13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "PNPT1 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "COXPD13"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in PNPT1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013977", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013977", 
            "name": "combined oxidative phosphorylation deficiency type 13"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111467", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111467", 
            "name": "COXPD13"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111467", 
        "description": "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111467", 
        "name": "combined oxidative phosphorylation deficiency 13"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614932", 
            "id": "614932", 
            "database": "MIM"
        }
    ]
}