{
    "disease_id": "DOID:0081299",
    "recommended_name": {
        "id": "DOID:0081299",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081299",
        "name": "oculopharyngodistal myopathy 3",
        "description": "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0023671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023671",
            "name": "oculopharyngodistal myopathy 3",
            "description": ""
        },
        {
            "id": "MONDO:0023671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023671",
            "name": "OPDM3",
            "description": ""
        },
        {
            "id": "MIM:619473",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619473",
            "name": "Oculopharyngodistal myopathy 3",
            "description": "Oculopharyngodistal myopathy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081299"
    ],
    "unlinked_id_list": []
}