{
    "disease_id": "DOID:0111516",
    "recommended_name": {
        "id": "DOID:0111516",
        "resource": "Disease Ontology",
        "url": "https://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 the DGUOK gene on chromosome 2p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://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": "https://disease-ontology.org/term/DOID:0111516",
            "name": "PEOB4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111516",
            "name": "autosomal recessive progressive external ophthalmoplegia 4",
            "description": ""
        },
        {
            "id": "DOID:0111516",
            "resource": "Disease Ontology",
            "url": "https://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": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4",
            "description": "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": "PEOB4",
            "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": ""
        },
        {
            "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": "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 with mitochondrial DNA deletions, autosomal recessive type 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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111516"
    ],
    "unlinked_id_list": []
}