{
    "disease_id": "DOID:0080465", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "epileptic encephalopathy, early infantile, 30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "early infantile epileptic encephalopathy caused by mutation in SIK1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "epileptic encephalopathy, early infantile, 30; EIEE30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "SIK1 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "epileptic encephalopathy, early infantile, type 30"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014595", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014595", 
            "name": "EIEE30"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080465", 
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080465", 
        "name": "early infantile epileptic encephalopathy 30"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080465#disease-associations", 
            "id": "0080465", 
            "database": "Alliance of Genome Resources"
        }
    ]
}