{
    "disease_id": "DOID:0080413",
    "recommended_name": {
        "id": "DOID:0080413",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080413",
        "name": "developmental and epileptic encephalopathy 18",
        "description": "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0080413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080413",
            "name": "DEE18",
            "description": ""
        },
        {
            "id": "DOID:0080413",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080413",
            "name": "early infantile epileptic encephalopathy 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "developmental and epileptic encephalopathy, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "DEE18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "EIEE18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "developmental and epileptic encephalopathy 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "early infantile epileptic encephalopathy without suppression burst",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "epileptic encephalopathy, early infantile, 18",
            "description": ""
        },
        {
            "id": "MONDO:0014201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014201",
            "name": "epileptic encephalopathy, early infantile, type 18",
            "description": ""
        },
        {
            "id": "MIM:615476",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615476",
            "name": "Developmental and epileptic encephalopathy 18",
            "description": "Developmental and epileptic encephalopathy 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080413"
    ],
    "unlinked_id_list": []
}