{
    "disease_id": "DOID:0050962",
    "recommended_name": {
        "id": "DOID:0050962",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050962",
        "name": "spinocerebellar ataxia 12",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia type 12",
            "description": "Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported."
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "SCA12",
            "description": ""
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia type 12",
            "description": ""
        },
        {
            "id": "MONDO:0011439",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "name": "spinocerebellar ataxia 12",
            "description": ""
        },
        {
            "id": "MIM:604326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604326",
            "name": "Spinocerebellar ataxia 12",
            "description": "Spinocerebellar ataxia 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050962"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050962",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050962",
            "categories": []
        },
        {
            "id": "MONDO:0011439",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011439",
            "categories": []
        },
        {
            "id": "MIM:604326",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604326",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IEA6-1",
            "uniprot_ac": "A0A0R4IEA6",
            "uniprot_id": "A0A0R4IEA6_DANRE",
            "refseq_ac": "NP_001025293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B",
                    "type": "recommended"
                },
                {
                    "name": "protein phosphatase 2, regulatory subunit B, beta b",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ppp2r2bb",
                    "type": "recommended"
                },
                {
                    "name": "ppp2r2bb",
                    "type": "synonym"
                },
                {
                    "name": "ppp2r2b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101861",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWR4-1",
            "uniprot_ac": "Q6ZWR4",
            "uniprot_id": "2ABB_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform",
                    "type": "recommended"
                },
                {
                    "name": "PP2A subunit B isoform B55-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform PR55-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform R2-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Ppp2r2b",
                    "type": "recommended"
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                {
                    "name": "2900026H06Rik",
                    "type": "synonym"
                },
                {
                    "name": "6330404L05Rik",
                    "type": "synonym"
                },
                {
                    "name": "E130009M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "PP2A-PR55B",
                    "type": "synonym"
                },
                {
                    "name": "PR55-BETA",
                    "type": "synonym"
                },
                {
                    "name": "Ppp2r2b",
                    "type": "synonym"
                },
                {
                    "name": "SCA12",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0050962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00005-1",
            "uniprot_ac": "Q00005",
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            "refseq_ac": "NP_001258828",
            "glycoprotein": "yes",
            "species": [
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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": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform",
                    "type": "recommended"
                },
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                    "name": "PP2A subunit B isoform B55-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform PR55-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform R2-beta",
                    "type": "synonym"
                },
                {
                    "name": "PP2A subunit B isoform beta",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 2, regulatory subunit B, beta",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform g",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PPP2R2B",
                    "type": "recommended"
                },
                {
                    "name": "B55BETA",
                    "type": "synonym"
                },
                {
                    "name": "PP2AB55BETA",
                    "type": "synonym"
                },
                {
                    "name": "PP2ABBETA",
                    "type": "synonym"
                },
                {
                    "name": "PP2APR55BETA",
                    "type": "synonym"
                },
                {
                    "name": "PP2APR55B",
                    "type": "synonym"
                },
                {
                    "name": "PPP2R2B",
                    "type": "synonym"
                },
                {
                    "name": "PR2AB55BETA",
                    "type": "synonym"
                },
                {
                    "name": "PR2ABBETA",
                    "type": "synonym"
                },
                {
                    "name": "PR2APR55BETA",
                    "type": "synonym"
                },
                {
                    "name": "PR52B",
                    "type": "synonym"
                },
                {
                    "name": "PR55-BETA",
                    "type": "synonym"
                },
                {
                    "name": "PR55BETA",
                    "type": "synonym"
                },
                {
                    "name": "SCA12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00005-1",
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                {
                    "id": "604326",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604326"
                },
                {
                    "id": "0050962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00362-1",
            "uniprot_ac": "Q00362",
            "uniprot_id": "2ABA_YEAST",
            "refseq_ac": "NP_011325",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase PP2A regulatory subunit B",
                    "type": "recommended"
                },
                {
                    "name": "Cell division control protein 55",
                    "type": "synonym"
                },
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                    "name": "PR55",
                    "type": "synonym"
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                {
                    "name": "protein phosphatase 2A regulatory subunit CDC55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDC55",
                    "type": "recommended"
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                    "name": "CDC55",
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                },
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                    "name": "G1345",
                    "type": "synonym"
                },
                {
                    "name": "TMR4",
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                    "id": "0050962",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
                }
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        {
            "uniprot_canonical_ac": "P36877-1",
            "uniprot_ac": "P36877",
            "uniprot_id": "2ABB_RAT",
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            "species": [
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform",
                    "type": "recommended"
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                {
                    "name": "BRbeta B-regulatory subunit of protein phosphatase 2A",
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "PP2A subunit B isoform PR55-beta",
                    "type": "synonym"
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                    "name": "PP2A subunit B isoform R2-beta",
                    "type": "synonym"
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                    "name": "PP2A subunit B isoform beta",
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                },
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                    "name": "serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform isoform 1",
                    "type": "synonym"
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            ],
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                {
                    "name": "Ppp2r2b",
                    "type": "recommended"
                },
                {
                    "name": "Ppp2r2b",
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                    "name": "Pppr2b2",
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                    "id": "0050962",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
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            "uniprot_canonical_ac": "P36872-1",
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                    "name": "Protein phosphatase PP2A regulatory subunit B",
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                },
                {
                    "name": "tws",
                    "type": "synonym"
                },
                {
                    "name": "tw",
                    "type": "synonym"
                },
                {
                    "name": "v158",
                    "type": "synonym"
                }
            ],
            "record_id": "P36872-1",
            "evidence": [
                {
                    "id": "0050962",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050962"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050962"
}