{
    "disease_id": "DOID:0111517",
    "recommended_name": {
        "id": "DOID:0111517",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111517",
        "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
        "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111517",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111517",
            "name": "PEOA2",
            "description": ""
        },
        {
            "id": "DOID:0111517",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111517",
            "name": "autosomal dominant progressive external ophthalmoplegia 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene."
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "PEOA2",
            "description": ""
        },
        {
            "id": "MONDO:0012238",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012238",
            "name": "progressive external ophthalmoplegia, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MIM:609283",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609283",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111517"
    ],
    "unlinked_id_list": []
}