{
    "disease_id": "DOID:0112214",
    "recommended_name": {
        "id": "DOID:0112214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112214",
        "name": "developmental and epileptic encephalopathy 78",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12."
    },
    "synonyms": [
        {
            "id": "DOID:0112214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112214",
            "name": "DEE78",
            "description": ""
        },
        {
            "id": "DOID:0112214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112214",
            "name": "early infantile epileptic encephalopathy 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "developmental and epileptic encephalopathy, 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "DEE78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "EIEE78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "developmental and epileptic encephalopathy 78",
            "description": ""
        },
        {
            "id": "MONDO:0032812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032812",
            "name": "epileptic encephalopathy, early infantile, 78",
            "description": ""
        },
        {
            "id": "MIM:618557",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618557",
            "name": "Developmental and epileptic encephalopathy 78",
            "description": "Developmental and epileptic encephalopathy 78"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112214"
    ],
    "unlinked_id_list": []
}