{
    "disease_id": "DOID:0080463",
    "recommended_name": {
        "id": "DOID:0080463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080463",
        "name": "developmental and epileptic encephalopathy 33",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080463",
            "name": "DEE33",
            "description": ""
        },
        {
            "id": "DOID:0080463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080463",
            "name": "early infantile epileptic encephalopathy 33",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "developmental and epileptic encephalopathy, 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": "DEE33",
            "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": "EEF1A2-Related Neurodevelopmental Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014625",
            "name": "EEF1A2-related neurodevelopmental disorder",
            "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": "developmental and epileptic encephalopathy 33",
            "description": ""
        },
        {
            "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": "epileptic encephalopathy, early infantile, type 33",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080463"
    ],
    "unlinked_id_list": []
}