{
    "disease_id": "DOID:0111515",
    "recommended_name": {
        "id": "DOID:0111515",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111515",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2",
        "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111515",
            "name": "PEOB2",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111515",
            "name": "adult-onset CPEO with mitochondrial myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111515",
            "name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy",
            "description": ""
        },
        {
            "id": "DOID:0111515",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111515",
            "name": "autosomal recessive progressive external ophthalmoplegia 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene."
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; PEOB2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "PEOB2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0014656",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014656",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1",
            "description": ""
        },
        {
            "id": "MIM:616479",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616479",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2"
        }
    ]
}