{
    "disease_id": "DOID:0111449", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "progressive myoclonic epilepsy type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "GOSR2 progressive myoclonic epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "epilepsy, progressive myoclonic, type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "PME type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "North Sea progressive myoclonus epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "GOSR2-related progressive myoclonus ataxia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "progressive myoclonus epilepsy type 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "epilepsy, progressive myoclonic, 6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "EPM6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "epilepsy, progressive myoclonic, 6; EPM6"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013526", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013526", 
            "name": "progressive myoclonic epilepsy caused by mutation in GOSR2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111449", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111449", 
            "name": "EPM6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111449", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111449", 
            "name": "GOSR2-related progressive myoclonus ataxia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111449", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111449", 
            "name": "North Sea progressive myoclonus epilepsy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111449", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111449", 
            "name": "PME type 6"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111449", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111449", 
            "name": "Progressive myoclonus epilepsy type 6"
        }, 
        {
            "url": "https://www.omim.org/entry/614018", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:614018", 
            "name": "Epilepsy, progressive myoclonic 6"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111449", 
        "description": "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111449", 
        "name": "progressive myoclonus epilepsy 6"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614018", 
            "id": "614018", 
            "database": "MIM"
        }
    ]
}