{
    "disease_id": "DOID:0111276",
    "recommended_name": {
        "id": "DOID:0111276",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111276",
        "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
        "description": "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111276",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111276",
            "name": "SANDO",
            "description": ""
        },
        {
            "id": "DOID:0111276",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111276",
            "name": "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
            "description": "A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia."
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "EPM5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "PME type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "PRICKLE2 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "SANDO",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "progressive myoclonic epilepsy caused by mutation in PRICKLE2",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "progressive myoclonus epilepsy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, 5, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, with sensory ataxic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "spinocerebellar ataxia with epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
            "description": "A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia."
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "EPM5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "PME type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "PRICKLE2 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "SANDO",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "progressive myoclonic epilepsy caused by mutation in PRICKLE2",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "progressive myoclonus epilepsy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, 5, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "epilepsy, progressive myoclonic, with sensory ataxic neuropathy",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011835",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011835",
            "name": "spinocerebellar ataxia with epilepsy",
            "description": ""
        },
        {
            "id": "MIM:607459",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607459",
            "name": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis",
            "description": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis"
        }
    ]
}