{
    "disease_id": "DOID:0081297",
    "recommended_name": {
        "id": "DOID:0081297",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081297",
        "name": "oculopharyngodistal myopathy 1",
        "description": "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy 1",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "OPDM1",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement",
            "description": ""
        },
        {
            "id": "MONDO:0020793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020793",
            "name": "oculopharyngodistal myopathy 1",
            "description": ""
        },
        {
            "id": "MIM:164310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164310",
            "name": "Oculopharyngodistal myopathy 1",
            "description": "Oculopharyngodistal myopathy 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081297"
    ],
    "unlinked_id_list": []
}