{
    "disease_id": "DOID:0061176",
    "recommended_name": {
        "id": "DOID:0061176",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061176",
        "name": "developmental and epileptic encephalopathy 118",
        "description": "A developmental and epileptic encephalopathy that is characterized by early-onset refractory epilepsy, severe global developmental delay usually with absent speech, hypotonia evolving to spastic quadriparesis, nystagmus, cortical visual impairment, and hematologic abnormalities that has_material_basis_in heterozygous mutation in the TMEM63B gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0979238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0979238",
            "name": "developmental and epileptic encephalopathy 118",
            "description": ""
        },
        {
            "id": "MIM:621250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621250",
            "name": "Developmental and epileptic encephalopathy 118",
            "description": "Developmental and epileptic encephalopathy 118"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061176"
    ],
    "unlinked_id_list": []
}