{
    "disease_id": "DOID:0111485", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "combined oxidative phosphorylation defect type 24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "NARS2 combined oxidative phosphorylation deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "combined oxidative phosphorylation deficiency type 24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "combined oxidative phosphorylation deficiency caused by mutation in NARS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "combined oxidative phosphorylation deficiency 24; COXPD24"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014547", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014547", 
            "name": "COXPD24"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111485", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111485", 
            "name": "COXPD24"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111485", 
        "description": "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111485", 
        "name": "combined oxidative phosphorylation deficiency 24"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616239", 
            "id": "616239", 
            "database": "MIM"
        }
    ]
}