{
    "disease_id": "DOID:0070471",
    "recommended_name": {
        "id": "DOID:0070471",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070471",
        "name": "early-onset epilepsy 2",
        "description": "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070471",
            "name": "EPEO2",
            "description": ""
        },
        {
            "id": "DOID:0070471",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070471",
            "name": "early-onset epilepsy-2 with or without developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0030005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030005",
            "name": "epilepsy, early-onset, with or without developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0030005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030005",
            "name": "EPEDD",
            "description": ""
        },
        {
            "id": "MONDO:0030005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030005",
            "name": "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY",
            "description": ""
        },
        {
            "id": "MONDO:0030005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030005",
            "name": "epilepsy, early-onset, with or without developmental delay",
            "description": ""
        },
        {
            "id": "MIM:618832",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618832",
            "name": "Epilepsy, early-onset, 2, with or without developmental delay",
            "description": "Epilepsy, early-onset, 2, with or without developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070471"
    ],
    "unlinked_id_list": []
}
