{
    "disease_id": "DOID:0080418", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033363", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033363", 
            "name": "epileptic encephalopathy, early infantile, 54"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033363", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033363", 
            "name": "epileptic encephalopathy, early infantile, 54; EIEE54"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0033363", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0033363", 
            "name": "EIEE54"
        }, 
        {
            "url": "https://www.omim.org/entry/617391", 
            "description": "Epileptic encephalopathy, early infantile, 54", 
            "resource": "MIM", 
            "id": "MIM:617391", 
            "name": "Epileptic encephalopathy, early infantile, 54"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080418", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080418", 
        "name": "early infantile epileptic encephalopathy 54"
    }
}