{
    "disease_id": "DOID:0050970",
    "recommended_name": {
        "id": "DOID:0050970",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050970",
        "name": "spinocerebellar ataxia 19/22",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor."
    },
    "synonyms": [
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "spinocerebellar ataxia type 19/22",
            "description": "Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor."
        },
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "SCA19/22",
            "description": ""
        },
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "spinocerebellar ataxia type 19",
            "description": ""
        },
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "SCA19",
            "description": ""
        },
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "spinocerebellar ataxia 19",
            "description": ""
        },
        {
            "id": "MONDO:0011819",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "name": "spinocerebellar ataxia 19 and 22",
            "description": ""
        },
        {
            "id": "MIM:607346",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607346",
            "name": "Spinocerebellar ataxia 19",
            "description": "Spinocerebellar ataxia 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050970"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050970",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050970",
            "categories": []
        },
        {
            "id": "MONDO:0011819",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011819",
            "categories": []
        },
        {
            "id": "MIM:607346",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607346",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0V1-1",
            "uniprot_ac": "Q9Z0V1",
            "uniprot_id": "KCND3_MOUSE",
            "refseq_ac": "NP_001034436",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv4.3L",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel Kv4.3M",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnd3",
                    "type": "recommended"
                },
                {
                    "name": "Kcnd3",
                    "type": "synonym"
                },
                {
                    "name": "Kncd3",
                    "type": "synonym"
                },
                {
                    "name": "Kv4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0V1-1",
            "evidence": [
                {
                    "id": "0050970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UK17-1",
            "uniprot_ac": "Q9UK17",
            "uniprot_id": "KCND3_HUMAN",
            "refseq_ac": "NP_004971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated Shal related subfamily D, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium ionic channel Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel long",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shal-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "sha1-related potassium channel Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCND3",
                    "type": "recommended"
                },
                {
                    "name": "BRGDA9",
                    "type": "synonym"
                },
                {
                    "name": "KCND3L",
                    "type": "synonym"
                },
                {
                    "name": "KCND3S",
                    "type": "synonym"
                },
                {
                    "name": "KCND3",
                    "type": "synonym"
                },
                {
                    "name": "KSHIVB",
                    "type": "synonym"
                },
                {
                    "name": "KV4.3",
                    "type": "synonym"
                },
                {
                    "name": "SCA19",
                    "type": "synonym"
                },
                {
                    "name": "SCA22",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UK17-1",
            "evidence": [
                {
                    "id": "607346",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607346"
                },
                {
                    "id": "0050970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62897-1",
            "uniprot_ac": "Q62897",
            "uniprot_id": "KCND3_RAT",
            "refseq_ac": "NP_001257891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "recommended"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "A-type voltage-gated potassium channel KCND3",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily D member 3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated Shal-related subfamily D, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage gated channel, Shal-related family, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Shal-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnd3",
                    "type": "recommended"
                },
                {
                    "name": "Kcnd3",
                    "type": "synonym"
                },
                {
                    "name": "Kv4.3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62897-1",
            "evidence": [
                {
                    "id": "0050970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050970"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17971-2",
            "uniprot_ac": "P17971",
            "uniprot_id": "KCNAL_DROME",
            "refseq_ac": "NP_001097646",
            "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 Shal",
                    "type": "recommended"
                },
                {
                    "name": "CG9262-PB",
                    "type": "synonym"
                },
                {
                    "name": "Shaker cognate l",
                    "type": "synonym"
                },
                {
                    "name": "Shaker-like",
                    "type": "synonym"
                },
                {
                    "name": "Shal-PB",
                    "type": "synonym"
                },
                {
                    "name": "Shal2",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate 1",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate L",
                    "type": "synonym"
                },
                {
                    "name": "shaker cognate l, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shal",
                    "type": "recommended"
                },
                {
                    "name": "CG9262",
                    "type": "synonym"
                },
                {
                    "name": "DNK[[v]]4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9262",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]4",
                    "type": "synonym"
                },
                {
                    "name": "Kv4/Shal",
                    "type": "synonym"
                },
                {
                    "name": "Kv4",
                    "type": "synonym"
                },
                {
                    "name": "SHAL2",
                    "type": "synonym"
                },
                {
                    "name": "Sh-l",
                    "type": "synonym"
                },
                {
                    "name": "ShaI",
                    "type": "synonym"
                },
                {
                    "name": "Shal",
                    "type": "synonym"
                },
                {
                    "name": "Shl",
                    "type": "synonym"
                },
                {
                    "name": "dShal",
                    "type": "synonym"
                },
                {
                    "name": "shaI",
                    "type": "synonym"
                },
                {
                    "name": "shal",
                    "type": "synonym"
                }
            ],
            "record_id": "P17971-2",
            "evidence": [
                {
                    "id": "0050970",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050970"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050970"
}