{
    "disease_id": "DOID:0111451", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "progressive myoclonic epilepsy type 8"
        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
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        }, 
        {
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            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "epilepsy, progressive myoclonic, 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "CERS1 progressive myoclonic epilepsy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "epilepsy, progressive myoclonic, type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "PME type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "EPM8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "progressive myoclonus epilepsy type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014545", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014545", 
            "name": "progressive myoclonic epilepsy caused by mutation in CERS1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111451", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111451", 
            "name": "EMP8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111451", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111451", 
            "name": "PME type 8"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111451", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111451", 
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111451", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111451", 
            "name": "progressive myoclonus epilepsy type 8"
        }, 
        {
            "url": "https://www.omim.org/entry/616230", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:616230", 
            "name": "Epilepsy, progressive myoclonic 8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111451", 
        "description": "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111451", 
        "name": "progressive myoclonus epilepsy 8"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/616230", 
            "id": "616230", 
            "database": "MIM"
        }
    ]
}