{
    "disease_id": "DOID:0070759",
    "recommended_name": {
        "id": "DOID:0070759",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070759",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6",
        "description": "A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070759",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070759",
            "name": "PEOB6",
            "description": ""
        },
        {
            "id": "MONDO:0957993",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957993",
            "name": "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MIM:620647",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620647",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070759"
    ],
    "unlinked_id_list": []
}
