{
    "disease_id": "DOID:0080462", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "KCNQ2-related epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "KCNQ2-related disorders"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "KCNQ2-NEE"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "epileptic encephalopathy, early infantile, 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "EIEE7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "epileptic encephalopathy, early infantile, type 7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "epileptic encephalopathy, early infantile, 7; EIEE7"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013387", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013387", 
            "name": "KCNQ2-related neonatal epileptic encephalopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080462", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080462", 
            "name": "KCNQ2-related epileptic encephalopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080462", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080462", 
            "name": "KCNQ2-related neonatal epileptic encephalopathy"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080462", 
        "description": "An early infantile 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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080462", 
        "name": "early infantile epileptic encephalopathy 7"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080462#disease-associations", 
            "id": "0080462", 
            "database": "Alliance of Genome Resources"
        }
    ]
}