{
    "disease_id": "DOID:0111691",
    "recommended_name": {
        "id": "DOID:0111691",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111691",
        "name": "familial adult myoclonic epilepsy 5",
        "description": "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "FAME5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "FCMTE5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "familial cortical myoclonic tremor and epilepsy 5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "early-onset epilepsy 5 with or without developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, 5",
            "description": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene."
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "CNTN2 epilepsy, familial adult myoclonic",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic caused by mutation in CNTN2",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, myoclonic, familial adult, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "FAME5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "cortical myoclonic tremor with epilepsy, familial, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial ADULT myoclonic, 5",
            "description": ""
        },
        {
            "id": "MIM:615400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615400",
            "name": "Epilepsy, early-onset, 5, with or without developmental delay",
            "description": "Epilepsy, early-onset, 5, with or without developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111691"
    ],
    "unlinked_id_list": []
}