{
    "disease_id": "DOID:0080460", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "epileptic encephalopathy, early infantile, 34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "SLC12A5 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "epileptic encephalopathy, early infantile, type 34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "EIEE34"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC12A5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014718", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014718", 
            "name": "epileptic encephalopathy, early infantile, 34; EIEE34"
        }, 
        {
            "url": "https://www.omim.org/entry/616645", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616645", 
            "name": "Epileptic encephalopathy, early infantile, 34"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080460", 
        "description": "An early infantile epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080460", 
        "name": "early infantile epileptic encephalopathy 34"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616645", 
            "id": "616645", 
            "database": "MIM"
        }
    ]
}