{
    "disease_id": "DOID:0090033",
    "recommended_name": {
        "id": "DOID:0090033",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090033",
        "name": "myoclonic dystonia",
        "description": "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0090034",
            "label": "myoclonic dystonia 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090036",
            "label": "myoclonic dystonia 26",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090036",
        "DOID:0090034",
        "DOID:0090033"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090033",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090033",
            "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": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "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": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CEZ0-1",
            "uniprot_ac": "Q8CEZ0",
            "uniprot_id": "KCTD2_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": "BTB/POZ domain-containing protein KCTD2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8CEZ0-1",
            "evidence": [
                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VC57-1",
            "uniprot_ac": "Q8VC57",
            "uniprot_id": "KCTD5_MOUSE",
            "refseq_ac": "NP_081284",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "BTB/POZ domain-containing protein KCTD5",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd5",
                    "type": "recommended"
                },
                {
                    "name": "2610030N08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kctd5",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0176",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VC57-1",
            "evidence": [
                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DEL1-1",
            "uniprot_ac": "B5DEL1",
            "uniprot_id": "KCTD5_RAT",
            "refseq_ac": "NP_001099238",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD5",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd5",
                    "type": "recommended"
                },
                {
                    "name": "Kctd5",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DEL1-1",
            "evidence": [
                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M5Q3-1",
            "uniprot_ac": "F1M5Q3",
            "uniprot_id": "F1M5Q3_RAT",
            "refseq_ac": "NP_001414582",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BTB/POZ domain-containing protein KCTD2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kctd2",
                    "type": "recommended"
                },
                {
                    "name": "Kctd2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566063",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M5Q3-1",
            "evidence": [
                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "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": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "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"
                }
            ],
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                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NXV2-1",
            "uniprot_ac": "Q9NXV2",
            "uniprot_id": "KCTD5_HUMAN",
            "refseq_ac": "NP_061865",
            "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 KCTD5",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCTD5",
                    "type": "recommended"
                },
                {
                    "name": "KCTD5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14681-1",
            "uniprot_ac": "Q14681",
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            "refseq_ac": "NP_056168",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
                    "name": "BTB/POZ domain-containing protein KCTD2",
                    "type": "recommended"
                },
                {
                    "name": "BTB/POZ domain-containing protein KCTD2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel tetramerization domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerisation domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel tetramerization domain-containing protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "KCTD2",
                    "type": "recommended"
                },
                {
                    "name": "KCTD2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0176",
                    "type": "synonym"
                }
            ],
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                    "id": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5Z5-1",
            "uniprot_ac": "Q8N5Z5",
            "uniprot_id": "KCD17_HUMAN",
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            "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": "0090033",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090033"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090033"
}