{
    "disease_id": "DOID:0080418",
    "recommended_name": {
        "id": "DOID:0080418",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080418",
        "name": "early infantile epileptic encephalopathy 54",
        "description": "An early infantile epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44."
    },
    "synonyms": [
        {
            "id": "MONDO:0033363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033363",
            "name": "epileptic encephalopathy, early infantile, 54",
            "description": ""
        },
        {
            "id": "MONDO:0033363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033363",
            "name": "epileptic encephalopathy, early infantile, 54; EIEE54",
            "description": ""
        },
        {
            "id": "MONDO:0033363",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033363",
            "name": "EIEE54",
            "description": ""
        },
        {
            "id": "MIM:617391",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617391",
            "name": "Developmental and epileptic encephalopathy 54",
            "description": "Developmental and epileptic encephalopathy 54"
        }
    ]
}