{
    "disease_id": "DOID:0080463",
    "recommended_name": {
        "id": "DOID:0080463",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080463",
        "name": "early infantile epileptic encephalopathy 33",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "epileptic encephalopathy, early infantile, 33",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene."
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "early infantile epileptic encephalopathy caused by mutation in EEF1A2",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "epileptic encephalopathy, early infantile, 33",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "EIEE33",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "epileptic encephalopathy, early infantile, type 33",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "EEF1A2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "epileptic encephalopathy, early infantile, 33; EIEE33",
            "description": ""
        },
        {
            "id": "MIM:616409",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616409",
            "name": "Developmental and epileptic encephalopathy 33",
            "description": "Developmental and epileptic encephalopathy 33"
        }
    ]
}