{
    "disease_id": "DOID:0090053",
    "recommended_name": {
        "id": "DOID:0090053",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090053",
        "name": "episodic kinesigenic dyskinesia 1",
        "description": "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0090053",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0090053",
            "name": "Paroxysmal kinesigenic choreoathetosis",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "episodic kinesigenic dyskinesia 1",
            "description": "Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements."
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "paroxysmal kinesigenic choreathetosis",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "episodic kinesigenic dyskinesia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "PRRT2 episodic kinesigenic dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "episodic kinesigenic dyskinesia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "paroxysmal kinesigenic dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "dystonia, familial paroxysmal",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "paroxysmal kinesigenic choreoathetosis",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "DYT-PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "dystonia 10",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "episodic kinesigenic dyskinesia caused by mutation in PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "familial PKD",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "episodic kinesigenic dyskinesia 1; EKD1",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "PxMD-PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "familial paroxysmal kinesigenic dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0007494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007494",
            "name": "EKD1",
            "description": ""
        },
        {
            "id": "MIM:128200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/128200",
            "name": "Episodic kinesigenic dyskinesia 1",
            "description": "Episodic kinesigenic dyskinesia 1"
        }
    ]
}