{
    "disease_id": "DOID:0080464",
    "recommended_name": {
        "id": "DOID:0080464",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080464",
        "name": "developmental and epileptic encephalopathy 53",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080464",
            "name": "DEE53",
            "description": ""
        },
        {
            "id": "DOID:0080464",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080464",
            "name": "early infantile epileptic encephalopathy 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "developmental and epileptic encephalopathy, 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "DEE53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "EIEE53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "developmental and epileptic encephalopathy 53",
            "description": ""
        },
        {
            "id": "MONDO:0033362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033362",
            "name": "epileptic encephalopathy, early infantile, 53",
            "description": ""
        },
        {
            "id": "MIM:617389",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617389",
            "name": "Developmental and epileptic encephalopathy 53",
            "description": "Developmental and epileptic encephalopathy 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080464"
    ],
    "unlinked_id_list": []
}