{
    "disease_id": "DOID:0060957",
    "recommended_name": {
        "id": "DOID:0060957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060957",
        "name": "myoclonic dystonia 34",
        "description": "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0030538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030538",
            "name": "dystonia 34, myoclonic",
            "description": ""
        },
        {
            "id": "MONDO:0030538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030538",
            "name": "DYT34",
            "description": ""
        },
        {
            "id": "MIM:619724",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619724",
            "name": "Dystonia 34, myoclonic",
            "description": "Dystonia 34, myoclonic"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060957"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060957",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060957",
            "categories": []
        },
        {
            "id": "MONDO:0030538",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030538",
            "categories": []
        },
        {
            "id": "MIM:619724",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619724",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GLV1-1",
            "uniprot_ac": "A0AC58GLV1",
            "uniprot_id": "A0AC58GLV1_DANRE",
            "refseq_ac": "XP_073770716",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small conductance calcium-activated potassium channel protein 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnn2",
                    "type": "recommended"
                },
                {
                    "name": "kcnn2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GLV1-1",
            "evidence": [
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58390-1",
            "uniprot_ac": "P58390",
            "uniprot_id": "KCNN2_MOUSE",
            "refseq_ac": "NP_001299834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small conductance calcium-activated potassium channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2 isoform SK2-L",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel subfamily N member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnn2",
                    "type": "recommended"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnn2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCA2",
                    "type": "synonym"
                },
                {
                    "name": "Sk2",
                    "type": "synonym"
                },
                {
                    "name": "bc",
                    "type": "synonym"
                },
                {
                    "name": "fri",
                    "type": "synonym"
                }
            ],
            "record_id": "P58390-1",
            "evidence": [
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2S1-1",
            "uniprot_ac": "Q9H2S1",
            "uniprot_id": "KCNN2_HUMAN",
            "refseq_ac": "NP_740721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small conductance calcium-activated potassium channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa2",
                    "type": "synonym"
                },
                {
                    "name": "apamin-sensitive small-conductance Ca2+-activated potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNN2",
                    "type": "recommended"
                },
                {
                    "name": "DYT34",
                    "type": "synonym"
                },
                {
                    "name": "KCNN2",
                    "type": "synonym"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "NEDMAB",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCA2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 2",
                    "type": "synonym"
                },
                {
                    "name": "hSK2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2S1-1",
            "evidence": [
                {
                    "id": "619724",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619724"
                },
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70604-1",
            "uniprot_ac": "P70604",
            "uniprot_id": "KCNN2_RAT",
            "refseq_ac": "NP_062187",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small conductance calcium-activated potassium channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2-like",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnn2",
                    "type": "recommended"
                },
                {
                    "name": "KCa2.2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnn2",
                    "type": "synonym"
                },
                {
                    "name": "SK2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa 2",
                    "type": "synonym"
                },
                {
                    "name": "SKCa2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70604-1",
            "evidence": [
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KVW5-1",
            "uniprot_ac": "Q7KVW5",
            "uniprot_id": "KCNN_DROME",
            "refseq_ac": "NP_001096885",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small conductance calcium-activated potassium channel protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10706-PN",
                    "type": "synonym"
                },
                {
                    "name": "Protein SK",
                    "type": "synonym"
                },
                {
                    "name": "SK-PN",
                    "type": "synonym"
                },
                {
                    "name": "dSK",
                    "type": "synonym"
                },
                {
                    "name": "small conductance calcium-activated potassium channel, isoform N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SK",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GM01744",
                    "type": "synonym"
                },
                {
                    "name": "CG10706",
                    "type": "synonym"
                },
                {
                    "name": "CG12733",
                    "type": "synonym"
                },
                {
                    "name": "CG4179",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10706",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10706",
                    "type": "synonym"
                },
                {
                    "name": "SK",
                    "type": "synonym"
                },
                {
                    "name": "Sk",
                    "type": "synonym"
                },
                {
                    "name": "dSK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KVW5-1",
            "evidence": [
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14576-1",
            "uniprot_ac": "O14576",
            "uniprot_id": "DC1I1_HUMAN",
            "refseq_ac": "NP_001129028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 1 intermediate chain 1",
                    "type": "recommended"
                },
                {
                    "name": "Cytoplasmic dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "DH IC-1",
                    "type": "synonym"
                },
                {
                    "name": "Dynein intermediate chain 1, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 1 intermediate chain 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 1 intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein intermediate chain 1",
                    "type": "synonym"
                },
                {
                    "name": "dynein intermediate chain 1, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "dynein, cytoplasmic, intermediate polypeptide 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYNC1I1",
                    "type": "recommended"
                },
                {
                    "name": "DNCI1",
                    "type": "synonym"
                },
                {
                    "name": "DNCIC1",
                    "type": "synonym"
                },
                {
                    "name": "DYNC1I1",
                    "type": "synonym"
                }
            ],
            "record_id": "O14576-1",
            "evidence": [
                {
                    "id": "0060957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060957"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060957"
}