{
    "disease_id": "DOID:0111520",
    "recommended_name": {
        "id": "DOID:0111520",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111520",
        "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in TWNK on chromosome 10q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111520",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111520",
            "name": "PEOA3",
            "description": ""
        },
        {
            "id": "DOID:0111520",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111520",
            "name": "autosomal dominant progressive external ophthalmoplegia 3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene."
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; PEOA3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "PEOA3",
            "description": ""
        },
        {
            "id": "MONDO:0012241",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012241",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK",
            "description": ""
        },
        {
            "id": "MIM:609286",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609286",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3"
        }
    ]
}