{
    "disease_id": "DOID:0070545",
    "recommended_name": {
        "id": "DOID:0070545",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070545",
        "name": "developmental and epileptic encephalopathy 116",
        "description": "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070545",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070545",
            "name": "DEE116",
            "description": ""
        },
        {
            "id": "MONDO:0970945",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0970945",
            "name": "developmental and epileptic encephalopathy 116",
            "description": ""
        }
    ]
}