{
    "disease_id": "DOID:0080439",
    "recommended_name": {
        "id": "DOID:0080439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080439",
        "name": "developmental and epileptic encephalopathy 14",
        "description": "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080439",
            "name": "DEE14",
            "description": ""
        },
        {
            "id": "DOID:0080439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080439",
            "name": "early infantile epileptic encephalopathy 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "developmental and epileptic encephalopathy, 14",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene."
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "KCNT1-related epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "DEE14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "EIEE14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "KCNT1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "developmental and epileptic encephalopathy 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "early infantile epileptic encephalopathy caused by mutation in KCNT1",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "epileptic encephalopathy, early infantile, 14",
            "description": ""
        },
        {
            "id": "MONDO:0013989",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013989",
            "name": "epileptic encephalopathy, early infantile, type 14",
            "description": ""
        },
        {
            "id": "MIM:614959",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614959",
            "name": "Developmental and epileptic encephalopathy 14",
            "description": "Developmental and epileptic encephalopathy 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080439"
    ],
    "unlinked_id_list": []
}