{
    "disease_id": "DOID:0081294",
    "recommended_name": {
        "id": "DOID:0081294",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081294",
        "name": "neuronal intranuclear inclusion disease",
        "description": "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011327",
            "name": "neuronal intranuclear inclusion disease",
            "description": "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss."
        },
        {
            "id": "MONDO:0011327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011327",
            "name": "neuronal intranuclear inclusion disease",
            "description": ""
        },
        {
            "id": "MONDO:0011327",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011327",
            "name": "neuronal intranuclear hyaline inclusion disease",
            "description": ""
        },
        {
            "id": "MIM:603472",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603472",
            "name": "Neuronal intranuclear inclusion disease",
            "description": "Neuronal intranuclear inclusion disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081294"
    ],
    "unlinked_id_list": []
}