{
    "disease_id": "DOID:0051076",
    "recommended_name": {
        "id": "DOID:0051076",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051076",
        "name": "neurodevelopmental disorder with parkinsonism or other movement abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by mild to severe developmental delay or intellectual disability and movement abnormalities including spasticity, early onset-parkinsonism with dystonia, myoclonus, or a combination of these and that has_material_basis_in homozygous or compound heterozygous mutation in the EPG5 gene on chromosome 18q12-q21."
    },
    "synonyms": [
        {
            "id": "DOID:0051076",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051076",
            "name": "NEDPAM",
            "description": ""
        },
        {
            "id": "MONDO:0980990",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980990",
            "name": "neurodevelopmental disorder with parkinsonism or other movement abnormalities",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051076"
    ],
    "unlinked_id_list": []
}
