{
    "disease_id": "DOID:0080447",
    "recommended_name": {
        "id": "DOID:0080447",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080447",
        "name": "developmental and epileptic encephalopathy 43",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11."
    },
    "synonyms": [
        {
            "id": "DOID:0080447",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080447",
            "name": "DEE43",
            "description": ""
        },
        {
            "id": "DOID:0080447",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080447",
            "name": "early infantile epileptic encephalopathy 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "developmental and epileptic encephalopathy, 43",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene."
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "DEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "EIEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "GABRB3 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "developmental and epileptic encephalopathy 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "early infantile epileptic encephalopathy caused by mutation in GABRB3",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, 43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, 43; EIEE43",
            "description": ""
        },
        {
            "id": "MONDO:0014921",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014921",
            "name": "epileptic encephalopathy, early infantile, type 43",
            "description": ""
        },
        {
            "id": "MIM:617113",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617113",
            "name": "Developmental and epileptic encephalopathy 43",
            "description": "Developmental and epileptic encephalopathy 43"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080447"
    ],
    "unlinked_id_list": []
}