{
    "disease_id": "DOID:0111444",
    "recommended_name": {
        "id": "DOID:0111444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111444",
        "name": "progressive myoclonus epilepsy 4",
        "description": "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "AMRF",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "EPM4",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "Myoclonus-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111444",
            "name": "action myoclonus-renal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "action myoclonus-renal failure syndrome",
            "description": "Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms."
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "AMRF",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "EPM4",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "action myoclonus-renal failure syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "epilepsy, progressive myoclonic 4, with or without renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "epilepsy, progressive myoclonic, 4, with or without renal failure",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "myoclonus-nephropathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009699",
            "name": "progressive myoclonic epilepsy type 4",
            "description": ""
        },
        {
            "id": "MIM:254900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/254900",
            "name": "Epilepsy, progressive myoclonic 4, with or without renal failure",
            "description": "Epilepsy, progressive myoclonic 4, with or without renal failure"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111444"
    ],
    "unlinked_id_list": []
}