{
    "disease_id": "DOID:0080424", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "epileptic encephalopathy, early infantile, 44"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "EIEE44"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "epileptic encephalopathy, early infantile, type 44"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "UBA5 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "early infantile epileptic encephalopathy caused by mutation in UBA5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014933", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014933", 
            "name": "epileptic encephalopathy, early infantile, 44; EIEE44"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080424", 
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080424", 
        "name": "early infantile epileptic encephalopathy 44"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080424#disease-associations", 
            "id": "0080424", 
            "database": "Alliance of Genome Resources"
        }
    ]
}