{
    "disease_id": "DOID:0061252",
    "recommended_name": {
        "id": "DOID:0061252",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061252",
        "name": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech",
        "description": "An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0980940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980940",
            "name": "neurodevelopmental disorder with hypotonia, epilepsy, and absent speech",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061252"
    ],
    "unlinked_id_list": []
}