{
    "disease_id": "DOID:0080460",
    "recommended_name": {
        "id": "DOID:0080460",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080460",
        "name": "early infantile epileptic encephalopathy 34",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, 34",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene."
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, 34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "SLC12A5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, type 34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "EIEE34",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC12A5",
            "description": ""
        },
        {
            "id": "MONDO:0014718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014718",
            "name": "epileptic encephalopathy, early infantile, 34; EIEE34",
            "description": ""
        },
        {
            "id": "MIM:616645",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616645",
            "name": "Developmental and epileptic encephalopathy 34",
            "description": "Developmental and epileptic encephalopathy 34"
        }
    ]
}