{
    "disease_id": "DOID:0050963",
    "recommended_name": {
        "id": "DOID:0050963",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050963",
        "name": "spinocerebellar ataxia 13",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia type 13",
            "description": "Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia."
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "SCA13",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia type 13",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "autosomal dominant cerebellar ataxia with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "autosomal dominant cerebellar ataxia with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "cerebellar ataxia, autosomal dominant with intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "cerebellar ataxia, autosomal dominant with mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0011529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "name": "spinocerebellar ataxia 13",
            "description": ""
        },
        {
            "id": "MIM:605259",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605259",
            "name": "Spinocerebellar ataxia 13",
            "description": "Spinocerebellar ataxia 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050963"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050963",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050963",
            "categories": []
        },
        {
            "id": "MONDO:0011529",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011529",
            "categories": []
        },
        {
            "id": "MIM:605259",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605259",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PG37-1",
            "uniprot_ac": "A0A8M9PG37",
            "uniprot_id": "A0A8M9PG37_DANRE",
            "refseq_ac": "XP_021325878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily C member 3b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily C member 3b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnc3b",
                    "type": "recommended"
                },
                {
                    "name": "kcnc3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PG37-1",
            "evidence": [
                {
                    "id": "0050963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63959-1",
            "uniprot_ac": "Q63959",
            "uniprot_id": "KCNC3_MOUSE",
            "refseq_ac": "NP_032448",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC3",
                    "type": "recommended"
                },
                {
                    "name": "KSHIIID",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily C member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc3",
                    "type": "recommended"
                },
                {
                    "name": "KShIIID",
                    "type": "synonym"
                },
                {
                    "name": "Kcnc3",
                    "type": "synonym"
                },
                {
                    "name": "Kcr2-3",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63959-1",
            "evidence": [
                {
                    "id": "0050963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14003-1",
            "uniprot_ac": "Q14003",
            "uniprot_id": "KCNC3_HUMAN",
            "refseq_ac": "NP_004968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel KCNC3",
                    "type": "recommended"
                },
                {
                    "name": "KSHIIID",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 3",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-related voltage-gated potassium channel protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shaw related subfamily C, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shaw-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel KCNC3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel protein KV3.3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNC3",
                    "type": "recommended"
                },
                {
                    "name": "KCNC3",
                    "type": "synonym"
                },
                {
                    "name": "KSHIIID",
                    "type": "synonym"
                },
                {
                    "name": "KV3.3",
                    "type": "synonym"
                },
                {
                    "name": "SCA13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14003-1",
            "evidence": [
                {
                    "id": "605259",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605259"
                },
                {
                    "id": "0050963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01956-1",
            "uniprot_ac": "Q01956",
            "uniprot_id": "KCNC3_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": "Voltage-gated potassium channel KCNC3",
                    "type": "recommended"
                },
                {
                    "name": "KSHIIID",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily C member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv3.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnc3",
                    "type": "recommended"
                }
            ],
            "record_id": "Q01956-1",
            "evidence": [
                {
                    "id": "0050963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050963"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17972-1",
            "uniprot_ac": "P17972",
            "uniprot_id": "KCNAW_DROME",
            "refseq_ac": "NP_476721",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel protein Shaw",
                    "type": "recommended"
                },
                {
                    "name": "CG2822-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaw-PA",
                    "type": "synonym"
                },
                {
                    "name": "Shaw2",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate w, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shaw",
                    "type": "recommended"
                },
                {
                    "name": "CG15419",
                    "type": "synonym"
                },
                {
                    "name": "CG2822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2822",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]3",
                    "type": "synonym"
                },
                {
                    "name": "Kv3.1",
                    "type": "synonym"
                },
                {
                    "name": "Kv3",
                    "type": "synonym"
                },
                {
                    "name": "SHAW2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw2",
                    "type": "synonym"
                },
                {
                    "name": "Shaw",
                    "type": "synonym"
                },
                {
                    "name": "dShaw2",
                    "type": "synonym"
                },
                {
                    "name": "dShaw",
                    "type": "synonym"
                },
                {
                    "name": "shaw",
                    "type": "synonym"
                }
            ],
            "record_id": "P17972-1",
            "evidence": [
                {
                    "id": "0050963",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050963"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050963"
}