{
    "disease_id": "DOID:0111519",
    "recommended_name": {
        "id": "DOID:0111519",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111519",
        "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6",
        "description": "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "autosomal dominant progressive external ophthalmoplegia 6",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "mitochondrial DNA deletion syndrome with limb-girdle weakness",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "mitochondrial DNA deletion syndrome with progressive myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "DNA2-related mitochondrial DNA deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "PEOA6",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "mtDNA deletion syndrome with limb-girdle weakness",
            "description": ""
        },
        {
            "id": "DOID:0111519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111519",
            "name": "mtDNA deletion syndrome with progressive myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "mitochondrial DNA deletion syndrome with progressive myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "mitochondrial DNA deletion syndrome with limb-girdle weakness",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "mtDNA deletion syndrome with limb-girdle weakness",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "mtDNA deletion syndrome with progressive myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "PEOA6",
            "description": ""
        },
        {
            "id": "MONDO:0014062",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014062",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6",
            "description": ""
        },
        {
            "id": "MIM:615156",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615156",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111519"
    ],
    "unlinked_id_list": []
}