{
    "disease_id": "DOID:0070393",
    "recommended_name": {
        "id": "DOID:0070393",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070393",
        "name": "developmental and epileptic encephalopathy 107",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070393",
            "name": "DEE107",
            "description": ""
        },
        {
            "id": "DOID:0070393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070393",
            "name": "early infantile epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "developmental and epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "DEE107",
            "description": ""
        },
        {
            "id": "MONDO:0031055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0031055",
            "name": "developmental and epileptic encephalopathy 107",
            "description": ""
        },
        {
            "id": "MIM:620033",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620033",
            "name": "Developmental and epileptic encephalopathy 107",
            "description": "Developmental and epileptic encephalopathy 107"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070393"
    ],
    "unlinked_id_list": []
}
