{
    "disease_id": "DOID:0111516",
    "recommended_name": {
        "id": "DOID:0111516",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111516",
        "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4",
        "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111516",
            "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111516",
            "name": "PEOB4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111516",
            "name": "autosomal recessive progressive external ophthalmoplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111516",
            "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency",
            "description": "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism."
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "PEOB4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; PEOB4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MONDO:0014899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014899",
            "name": "progressive external ophthalmoplegia, autosomal recessive 4",
            "description": ""
        },
        {
            "id": "MIM:617070",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617070",
            "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"
        }
    ]
}