{
    "disease_id": "DOID:0070380",
    "recommended_name": {
        "id": "DOID:0070380",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070380",
        "name": "developmental and epileptic encephalopathy 85",
        "description": "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0070380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070380",
            "name": "DEE85",
            "description": ""
        },
        {
            "id": "DOID:0070380",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070380",
            "name": "early infantile epileptic encephalopathy 85",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "developmental and epileptic encephalopathy, 85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "DEE85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "EIEE85",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "developmental and epileptic encephalopathy 85, with or without midline brain defects, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0026771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026771",
            "name": "epileptic encephalopathy, early infantile, 85, with or without midline brain defects",
            "description": ""
        },
        {
            "id": "MIM:301044",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301044",
            "name": "Developmental and epileptic encephalopathy 85 with or without midline brain defects",
            "description": "Developmental and epileptic encephalopathy 85 with or without midline brain defects"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070380"
    ],
    "unlinked_id_list": []
}