{
    "disease_id": "DOID:0070713",
    "recommended_name": {
        "id": "DOID:0070713",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070713",
        "name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",
        "description": "An autosomal dominant intellectual developmental disorder characterized by mildly to severely impaired intellectual development, febrile seizures or epilepsy, facial dysmorphism, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KLHL20 gene on chromosome 1q25."
    },
    "synonyms": [
        {
            "id": "DOID:0070713",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070713",
            "name": "NEDSZFB",
            "description": ""
        },
        {
            "id": "MONDO:0980709",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980709",
            "name": "neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070713"
    ],
    "unlinked_id_list": []
}