{
    "disease_id": "DOID:0090036",
    "recommended_name": {
        "id": "DOID:0090036",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090036",
        "name": "myoclonic dystonia 26",
        "description": "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "myoclonic dystonia 26",
            "description": "Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene."
        },
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "KCTD17 myoclonus-dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "myoclonic dystonia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "myoclonus-dystonia syndrome caused by mutation in KCTD17",
            "description": ""
        },
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "DYT26",
            "description": ""
        },
        {
            "id": "MONDO:0014620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "name": "dystonia 26, myoclonic",
            "description": ""
        },
        {
            "id": "MIM:616398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616398",
            "name": "Dystonia 26, myoclonic",
            "description": "Dystonia 26, myoclonic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090036"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090036",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090036",
            "categories": []
        },
        {
            "id": "MONDO:0014620",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014620",
            "categories": []
        },
        {
            "id": "MIM:616398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B2U6-1",
            "uniprot_ac": "A0A8M2B2U6",
            "uniprot_id": "A0A8M2B2U6_DANRE",
            "refseq_ac": "XP_005156234",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kctd17",
                    "type": "recommended"
                },
                {
                    "name": "kctd17",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B2U6-1",
            "evidence": [
                {
                    "id": "0090036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E0CYQ0-1",
            "uniprot_ac": "E0CYQ0",
            "uniprot_id": "E0CYQ0_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel tetramerisation domain containing 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd17",
                    "type": "recommended"
                }
            ],
            "record_id": "E0CYQ0-1",
            "evidence": [
                {
                    "id": "0090036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5Z5-1",
            "uniprot_ac": "Q8N5Z5",
            "uniprot_id": "KCD17_HUMAN",
            "refseq_ac": "NP_001269615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD17",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD17 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCTD17",
                    "type": "recommended"
                },
                {
                    "name": "KCTD17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5Z5-1",
            "evidence": [
                {
                    "id": "616398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616398"
                },
                {
                    "id": "0090036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AKZ1-1",
            "uniprot_ac": "A0A8I6AKZ1",
            "uniprot_id": "A0A8I6AKZ1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium channel tetramerization domain containing 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd17",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AKZ1-1",
            "evidence": [
                {
                    "id": "0090036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090036"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W579-1",
            "uniprot_ac": "Q9W579",
            "uniprot_id": "Q9W579_DROME",
            "refseq_ac": "NP_001284786",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32810-PD",
                    "type": "synonym"
                },
                {
                    "name": "Insomniac, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Insomniac, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Insomniac, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "inc-PD",
                    "type": "synonym"
                },
                {
                    "name": "insomniac, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "insomniac",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "inc",
                    "type": "recommended"
                },
                {
                    "name": "CG14783",
                    "type": "synonym"
                },
                {
                    "name": "CG14784",
                    "type": "synonym"
                },
                {
                    "name": "CG32810",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32810",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32810",
                    "type": "synonym"
                },
                {
                    "name": "EG:196F3.2",
                    "type": "synonym"
                },
                {
                    "name": "INC",
                    "type": "synonym"
                },
                {
                    "name": "inc",
                    "type": "synonym"
                },
                {
                    "name": "ins",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W579-1",
            "evidence": [
                {
                    "id": "0090036",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090036"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090036"
}