{
    "disease_id": "DOID:0080441", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "epileptic encephalopathy, early infantile, 49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "early infantile epileptic encephalopathy caused by mutation in DENND5A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "DENND5A early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "EIEE49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "epileptic encephalopathy, early infantile, 49; EIEE49"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015002", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015002", 
            "name": "epileptic encephalopathy, early infantile, type 49"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080441", 
        "description": "An early infantile epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080441", 
        "name": "early infantile epileptic encephalopathy 49"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080441#disease-associations", 
            "id": "0080441", 
            "database": "Alliance of Genome Resources"
        }
    ]
}