{
    "disease_id": "DOID:0050955",
    "recommended_name": {
        "id": "DOID:0050955",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050955",
        "name": "spinocerebellar ataxia 2",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "spinocerebellar ataxia type 2",
            "description": "A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea."
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "ATXN2 autosomal dominant cerebellar ataxia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "OPCA2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "SCA2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "spinocerebellar ataxia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "ALS13",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "SCA 2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "Wadia swami syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "amyotrophic lateral sclerosis 13",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "olivopontocerebellar atrophy Holguin type",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "spinocerebellar ataxia 2",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "spinocerebellar ataxia Cuban type",
            "description": ""
        },
        {
            "id": "MONDO:0008458",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "name": "spinocerebellar ataxia with slow eye movements",
            "description": ""
        },
        {
            "id": "MIM:183090",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/183090",
            "name": "Spinocerebellar ataxia 2",
            "description": "Spinocerebellar ataxia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050955"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050955",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050955",
            "categories": []
        },
        {
            "id": "MONDO:0008458",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008458",
            "categories": []
        },
        {
            "id": "MIM:183090",
            "database": "MIM",
            "url": "https://www.omim.org/entry/183090",
            "categories": []
        }
    ],
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            "uniprot_ac": "A2CF31",
            "uniprot_id": "A2CF31_DANRE",
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                    "taxid": 7955,
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "Ataxin-2",
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                },
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                }
            ],
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                    "name": "atxn2",
                    "type": "recommended"
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                    "name": "si:dkey-165i4.1",
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            ],
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                }
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        },
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            "uniprot_ac": "O70305",
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            "refseq_ac": "",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                }
            ],
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                    "name": "Atxn2",
                    "type": "recommended"
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                    "type": "synonym"
                },
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            ],
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            ]
        },
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Ataxin-2-like protein",
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                },
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                    "name": "ataxin 2 related protein",
                    "type": "synonym"
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                    "name": "ataxin-2-like protein isoform 1",
                    "type": "synonym"
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                    "name": "ataxin-2-like protein",
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                    "type": "recommended"
                },
                {
                    "name": "A2D",
                    "type": "synonym"
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                {
                    "name": "A2LG",
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                },
                {
                    "name": "A2RP",
                    "type": "synonym"
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                    "name": "A2lp",
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                {
                    "name": "Atxn2l",
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                {
                    "name": "Atxnl2",
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                }
            ],
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                    "id": "0050955",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Ataxin-2",
                    "type": "recommended"
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                {
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                    "name": "Trinucleotide repeat-containing gene 13 protein",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "spinocerebellar ataxia type 2 protein",
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                    "name": "trinucleotide repeat-containing gene 13 protein",
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            ],
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                    "name": "ATXN2",
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                {
                    "name": "SCA2",
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                    "id": "0050955",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
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            ],
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                    "name": "Atx2-PD",
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                    "name": "CG5166-PD",
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                    "name": "anon-fast-evolving-2E1",
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                    "name": "Dmel\\CG5166",
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                    "name": "dAtx2",
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                    "name": "A2RP",
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                    "name": "ATXN2L",
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                    "id": "0050955",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050955"
}