{
    "disease_id": "DOID:0070442",
    "recommended_name": {
        "id": "DOID:0070442",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070442",
        "name": "paroxysmal nonkinesigenic dyskinesia 3",
        "description": "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070442",
            "name": "generalized epilepsy and paroxysmal dyskinesia",
            "description": ""
        },
        {
            "id": "DOID:0070442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070442",
            "name": "paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "generalized epilepsy-paroxysmal dyskinesia syndrome",
            "description": "Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "GEPD",
            "description": ""
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "PNKD3",
            "description": ""
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "generalised epilepsy and paroxysmal dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "generalized epilepsy and paroxysmal dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012276",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012276",
            "name": "paroxysmal nonkinesigenic dyskinesia, 3, with or without generalised epilepsy",
            "description": ""
        },
        {
            "id": "MIM:609446",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609446",
            "name": "Paroxysmal non-kinesigenic dyskinesia 3 with or without generalized epilepsy",
            "description": "Paroxysmal non-kinesigenic dyskinesia 3 with or without generalized epilepsy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070442"
    ],
    "unlinked_id_list": []
}