{
    "disease_id": "DOID:0080424",
    "recommended_name": {
        "id": "DOID:0080424",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080424",
        "name": "early infantile epileptic encephalopathy 44",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, 44",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene."
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, 44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "EIEE44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, type 44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "UBA5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "early infantile epileptic encephalopathy caused by mutation in UBA5",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, 44; EIEE44",
            "description": ""
        },
        {
            "id": "MIM:617132",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617132",
            "name": "Developmental and epileptic encephalopathy 44",
            "description": "Developmental and epileptic encephalopathy 44"
        }
    ]
}