{
    "disease_id": "DOID:0080451",
    "recommended_name": {
        "id": "DOID:0080451",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080451",
        "name": "early infantile epileptic encephalopathy 29",
        "description": "An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AARS gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, 29",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene."
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, 29; EIEE29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, 29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "EIEE29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "epileptic encephalopathy, early infantile, type 29",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "AARS early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014593",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014593",
            "name": "early infantile epileptic encephalopathy caused by mutation in AARS",
            "description": ""
        },
        {
            "id": "MIM:616339",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616339",
            "name": "Developmental and epileptic encephalopathy 29",
            "description": "Developmental and epileptic encephalopathy 29"
        }
    ]
}
