{
    "disease_id": "DOID:0080454", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "epileptic encephalopathy, early infantile, 42"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "epileptic encephalopathy, early infantile, type 42"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "CACNA1A early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "EIEE42"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "early infantile epileptic encephalopathy caused by mutation in CACNA1A"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014917", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014917", 
            "name": "epileptic encephalopathy, early infantile, 42; EIEE42"
        }, 
        {
            "url": "https://www.omim.org/entry/617106", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617106", 
            "name": "Epileptic encephalopathy, early infantile, 42"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080454", 
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080454", 
        "name": "early infantile epileptic encephalopathy 42"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617106", 
            "id": "617106", 
            "database": "MIM"
        }
    ]
}