{
    "disease_id": "DOID:0070696",
    "recommended_name": {
        "id": "DOID:0070696",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070696",
        "name": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity",
        "description": "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42."
    },
    "synonyms": [
        {
            "id": "DOID:0070696",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070696",
            "name": "NEDSHS",
            "description": ""
        },
        {
            "id": "MONDO:0980968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980968",
            "name": "neurodevelopmental disorder with seizures, hypotonia, and variable spasticity",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070696"
    ],
    "unlinked_id_list": []
}