{
    "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 rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."
        },
        {
            "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 rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions."
        },
        {
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111276"
    ],
    "unlinked_id_list": []
}