{
    "disease_id": "DOID:0090053",
    "recommended_name": {
        "id": "DOID:0090053",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0090053",
            "name": "Paroxysmal kinesigenic choreoathetosis",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "episodic kinesigenic dyskinesia 1",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "PRRT2 episodic kinesigenic dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "PxMD-PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "episodic kinesigenic dyskinesia 1",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "episodic kinesigenic dyskinesia caused by mutation in PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "episodic kinesigenic dyskinesia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "name": "DYT-PRRT2",
            "description": ""
        },
        {
            "id": "MONDO:0100352",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090053"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090053",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090053",
            "categories": []
        },
        {
            "id": "MONDO:0100352",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100352",
            "categories": []
        },
        {
            "id": "MIM:128200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/128200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F7R0-1",
            "uniprot_ac": "E7F7R0",
            "uniprot_id": "E7F7R0_DANRE",
            "refseq_ac": "XP_002663950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein prrt2",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein prrt2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prrt2",
                    "type": "recommended"
                },
                {
                    "name": "prrt2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F7R0-1",
            "evidence": [
                {
                    "id": "0090053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PUL5-1",
            "uniprot_ac": "E9PUL5",
            "uniprot_id": "PRRT2_MOUSE",
            "refseq_ac": "NP_001096033",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-rich transmembrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "Dispanin subfamily B member 3",
                    "type": "synonym"
                },
                {
                    "name": "dispanin subfamily B member 3",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich transmembrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prrt2",
                    "type": "recommended"
                },
                {
                    "name": "1500031I19Rik",
                    "type": "synonym"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "Prrt2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PUL5-1",
            "evidence": [
                {
                    "id": "0090053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z6L0-1",
            "uniprot_ac": "Q7Z6L0",
            "uniprot_id": "PRRT2_HUMAN",
            "refseq_ac": "NP_001243371",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-rich transmembrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Benign familial infantile convulsions-2",
                    "type": "synonym"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "Dispanin subfamily B member 3",
                    "type": "synonym"
                },
                {
                    "name": "Paroxysmal kinesigenic dyskinesia",
                    "type": "synonym"
                },
                {
                    "name": "dispanin subfamily B member 3",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 10",
                    "type": "synonym"
                },
                {
                    "name": "infantile convulsions and paroxysmal choreoathetosis",
                    "type": "synonym"
                },
                {
                    "name": "interferon induced transmembrane protein domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich transmembrane protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRRT2",
                    "type": "recommended"
                },
                {
                    "name": "BFIC2",
                    "type": "synonym"
                },
                {
                    "name": "BFIS2",
                    "type": "synonym"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "DYT10",
                    "type": "synonym"
                },
                {
                    "name": "EKD1",
                    "type": "synonym"
                },
                {
                    "name": "FICCA",
                    "type": "synonym"
                },
                {
                    "name": "ICCA",
                    "type": "synonym"
                },
                {
                    "name": "IFITMD1",
                    "type": "synonym"
                },
                {
                    "name": "PKC",
                    "type": "synonym"
                },
                {
                    "name": "PRRT2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z6L0-1",
            "evidence": [
                {
                    "id": "128200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/128200"
                },
                {
                    "id": "0090053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZFB6-1",
            "uniprot_ac": "D3ZFB6",
            "uniprot_id": "PRRT2_RAT",
            "refseq_ac": "NP_001263399",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proline-rich transmembrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "Dispanin subfamily B member 3",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich transmembrane protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prrt2",
                    "type": "recommended"
                },
                {
                    "name": "DSPB3",
                    "type": "synonym"
                },
                {
                    "name": "Prrt2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564195",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZFB6-1",
            "evidence": [
                {
                    "id": "0090053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090053"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090053"
}