{
    "disease_id": "DOID:0070390",
    "recommended_name": {
        "id": "DOID:0070390",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070390",
        "name": "developmental and epileptic encephalopathy 104",
        "description": "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070390",
            "name": "DEE104",
            "description": ""
        },
        {
            "id": "DOID:0070390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070390",
            "name": "early infantile epileptic encephalopathy 104",
            "description": ""
        },
        {
            "id": "MONDO:0031021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031021",
            "name": "developmental and epileptic encephalopathy 104",
            "description": ""
        },
        {
            "id": "MONDO:0031021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031021",
            "name": "DEE104",
            "description": ""
        },
        {
            "id": "MONDO:0031021",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031021",
            "name": "developmental and epileptic encephalopathy 104",
            "description": ""
        },
        {
            "id": "MIM:619970",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619970",
            "name": "Developmental and epileptic encephalopathy 104",
            "description": "Developmental and epileptic encephalopathy 104"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070390"
    ],
    "unlinked_id_list": []
}