{
    "disease_id": "DOID:0111451",
    "recommended_name": {
        "id": "DOID:0111451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111451",
        "name": "progressive myoclonus epilepsy 8",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "EMP8",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "PME type 8",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111451",
            "name": "progressive myoclonus epilepsy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy type 8",
            "description": "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene."
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "CERS1 progressive myoclonic epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "EPM8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "PME type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "epilepsy, progressive myoclonic, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy caused by mutation in CERS1",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonic epilepsy due to CERS1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "progressive myoclonus epilepsy type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014545",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014545",
            "name": "epilepsy, progressive myoclonic, 8",
            "description": ""
        },
        {
            "id": "MIM:616230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616230",
            "name": "Epilepsy, progressive myoclonic 8",
            "description": "Epilepsy, progressive myoclonic 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111451"
    ],
    "unlinked_id_list": []
}