{
    "disease_id": "DOID:0080455",
    "recommended_name": {
        "id": "DOID:0080455",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080455",
        "name": "developmental and epileptic encephalopathy 52",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080455",
            "name": "early infantile epileptic encephalopathy 52",
            "description": ""
        },
        {
            "id": "DOID:0080455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080455",
            "name": "DEE52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "developmental and epileptic encephalopathy, 52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "DEE52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "EIEE52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "developmental and epileptic encephalopathy 52",
            "description": ""
        },
        {
            "id": "MONDO:0033361",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033361",
            "name": "epileptic encephalopathy, early infantile, 52",
            "description": ""
        },
        {
            "id": "MIM:617350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617350",
            "name": "Developmental and epileptic encephalopathy 52",
            "description": "Developmental and epileptic encephalopathy 52"
        }
    ]
}