{
    "disease_id": "DOID:0080447", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "epileptic encephalopathy, early infantile, 43"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "epileptic encephalopathy, early infantile, 43; EIEE43"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "EIEE43"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "early infantile epileptic encephalopathy caused by mutation in GABRB3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "GABRB3 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014921", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014921", 
            "name": "epileptic encephalopathy, early infantile, type 43"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080447", 
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080447", 
        "name": "early infantile epileptic encephalopathy 43"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080447#disease-associations", 
            "id": "0080447", 
            "database": "Alliance of Genome Resources"
        }
    ]
}