{
    "disease_id": "DOID:0080462",
    "recommended_name": {
        "id": "DOID:0080462",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080462",
        "name": "developmental and epileptic encephalopathy 7",
        "description": "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080462",
            "name": "KCNQ2-related epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080462",
            "name": "KCNQ2-related neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "DOID:0080462",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080462",
            "name": "early infantile epileptic encephalopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "developmental and epileptic encephalopathy, 7",
            "description": "KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability."
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "DEE7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "EIEE7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-NEE",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-related epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-related neonatal epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "developmental and epileptic encephalopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "epileptic encephalopathy, early infantile, 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "epileptic encephalopathy, early infantile, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013387",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013387",
            "name": "KCNQ2-related disorders",
            "description": ""
        },
        {
            "id": "MIM:613720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613720",
            "name": "Developmental and epileptic encephalopathy 7",
            "description": "Developmental and epileptic encephalopathy 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080462"
    ],
    "unlinked_id_list": []
}