{
    "disease_id": "DOID:0080448", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "epileptic encephalopathy, early infantile, 48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "epileptic encephalopathy, early infantile, type 48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "EIEE48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "early infantile epileptic encephalopathy caused by mutation in AP3B2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "epileptic encephalopathy, early infantile, 48; EIEE48"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015000", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015000", 
            "name": "AP3B2 early infantile epileptic encephalopathy"
        }, 
        {
            "url": "https://www.omim.org/entry/617276", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:617276", 
            "name": "Epileptic encephalopathy, early infantile, 48"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080448", 
        "description": "An early infantile epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080448", 
        "name": "early infantile epileptic encephalopathy 48"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/617276", 
            "id": "617276", 
            "database": "MIM"
        }
    ]
}