{
    "disease_id": "DOID:0051087",
    "recommended_name": {
        "id": "DOID:0051087",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051087",
        "name": "developmental and epileptic encephalopathy 115",
        "description": "A developmental and epileptic encephalopathy that is characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death and that has_material_basis_in homozygous or compound heterozygous mutation in the SNF8 gene on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0968946",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968946",
            "name": "developmental and epileptic encephalopathy 115",
            "description": ""
        },
        {
            "id": "MIM:620783",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620783",
            "name": "Developmental and epileptic encephalopathy 115",
            "description": "Developmental and epileptic encephalopathy 115"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051087"
    ],
    "unlinked_id_list": []
}