{
    "disease_id": "DOID:0111445",
    "recommended_name": {
        "id": "DOID:0111445",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111445",
        "name": "progressive myoclonus epilepsy 10",
        "description": "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21."
    },
    "synonyms": [
        {
            "id": "DOID:0111445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111445",
            "name": "EPM10",
            "description": ""
        },
        {
            "id": "DOID:0111445",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111445",
            "name": "early-onset Lafora body disease",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "early-onset Lafora body disease",
            "description": "Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades."
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "EPM10",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "epilepsy, progressive myoclonic, 10",
            "description": ""
        },
        {
            "id": "MONDO:0014717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014717",
            "name": "epilepsy, progressive myoclonic, type 10",
            "description": ""
        },
        {
            "id": "MIM:616640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616640",
            "name": "Epilepsy, progressive myoclonic 10",
            "description": "Epilepsy, progressive myoclonic 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111445"
    ],
    "unlinked_id_list": []
}