{
    "disease_id": "DOID:0112112",
    "recommended_name": {
        "id": "DOID:0112112",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112112",
        "name": "combined oxidative phosphorylation deficiency 48",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in NSUN3 on chromosome 3q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112112",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112112",
            "name": "COXPD48",
            "description": ""
        },
        {
            "id": "MIM:619012",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619012",
            "name": "Combined oxidative phosphorylation deficiency 48",
            "description": "Combined oxidative phosphorylation deficiency 48"
        }
    ]
}