{
    "disease_id": "DOID:0080413", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014201", 
            "name": "early infantile epileptic encephalopathy without suppression burst"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014201", 
            "name": "epileptic encephalopathy, early infantile, 18; EIEE18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014201", 
            "name": "EIEE18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014201", 
            "name": "epileptic encephalopathy, early infantile, type 18"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014201", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014201", 
            "name": "epileptic encephalopathy, early infantile, 18"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080413", 
        "description": "An early infantile 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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080413", 
        "name": "early infantile epileptic encephalopathy 18"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080413#disease-associations", 
            "id": "0080413", 
            "database": "Alliance of Genome Resources"
        }
    ]
}