{
    "disease_id": "DOID:0080445",
    "recommended_name": {
        "id": "DOID:0080445",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080445",
        "name": "developmental and epileptic encephalopathy 13",
        "description": "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080445",
            "name": "early infantile epileptic encephalopathy 13",
            "description": ""
        },
        {
            "id": "DOID:0080445",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080445",
            "name": "DEE13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "developmental and epileptic encephalopathy, 13",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene."
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "DEE13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "EIEE13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "developmental and epileptic encephalopathy 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "early infantile epileptic encephalopathy caused by mutation in SCN8A",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "early infantile epileptic encephalopathy-13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "epileptic encephalopathy, early infantile, 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "epileptic encephalopathy, early infantile, type 13",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013801",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013801",
            "name": "SCN8A epilepsy",
            "description": ""
        },
        {
            "id": "MIM:614558",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614558",
            "name": "Developmental and epileptic encephalopathy 13",
            "description": "Developmental and epileptic encephalopathy 13"
        }
    ]
}