{
    "disease_id": "DOID:0050954",
    "recommended_name": {
        "id": "DOID:0050954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050954",
        "name": "spinocerebellar ataxia 1",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia type 1",
            "description": "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities."
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "ATXN1 autosomal dominant cerebellar ataxia type I",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "SCA1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "Sca1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "OPCA1",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "OPCA4",
            "description": ""
        },
        {
            "id": "MONDO:0008119",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "name": "spinocerebellar ataxia 1",
            "description": ""
        },
        {
            "id": "MIM:164400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164400",
            "name": "Spinocerebellar ataxia 1",
            "description": "Spinocerebellar ataxia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050954"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050954",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050954",
            "categories": []
        },
        {
            "id": "MONDO:0008119",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008119",
            "categories": []
        },
        {
            "id": "MIM:164400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/164400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F6Z5-1",
            "uniprot_ac": "E7F6Z5",
            "uniprot_id": "E7F6Z5_DANRE",
            "refseq_ac": "XP_068070234",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atxn1b",
                    "type": "recommended"
                },
                {
                    "name": "atxn1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F6Z5-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AA52Z3H5-1",
            "uniprot_ac": "A0AA52Z3H5",
            "uniprot_id": "A0AA52Z3H5_DANRE",
            "refseq_ac": "NP_001038291",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atxn1a",
                    "type": "recommended"
                },
                {
                    "name": "atxn1a",
                    "type": "synonym"
                },
                {
                    "name": "atxn1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-125a6.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AA52Z3H5-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54254-1",
            "uniprot_ac": "P54254",
            "uniprot_id": "ATX1_MOUSE",
            "refseq_ac": "NP_001186233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-1",
                    "type": "recommended"
                },
                {
                    "name": "Spinocerebellar ataxia type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn1",
                    "type": "recommended"
                },
                {
                    "name": "2900016G23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atx1",
                    "type": "synonym"
                },
                {
                    "name": "Atxn1",
                    "type": "synonym"
                },
                {
                    "name": "Gm10786",
                    "type": "synonym"
                },
                {
                    "name": "Sca1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54254-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54253-1",
            "uniprot_ac": "P54253",
            "uniprot_id": "ATX1_HUMAN",
            "refseq_ac": "NP_000323",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-1",
                    "type": "recommended"
                },
                {
                    "name": "Spinocerebellar ataxia type 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "alternative ataxin1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1 isoform ATXN1",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN1",
                    "type": "recommended"
                },
                {
                    "name": "ATX1",
                    "type": "synonym"
                },
                {
                    "name": "ATXN1",
                    "type": "synonym"
                },
                {
                    "name": "D6S504E",
                    "type": "synonym"
                },
                {
                    "name": "SCA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P54253-1",
            "evidence": [
                {
                    "id": "164400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/164400"
                },
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63540-1",
            "uniprot_ac": "Q63540",
            "uniprot_id": "ATX1_RAT",
            "refseq_ac": "NP_036858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-1",
                    "type": "recommended"
                },
                {
                    "name": "Spinocerebellar ataxia type 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 1",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn1",
                    "type": "recommended"
                },
                {
                    "name": "Atxn1",
                    "type": "synonym"
                },
                {
                    "name": "Sca1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63540-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3V7-1",
            "uniprot_ac": "Q9W3V7",
            "uniprot_id": "Q9W3V7_DROME",
            "refseq_ac": "NP_572356",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin 1",
                    "type": "synonym"
                },
                {
                    "name": "Ataxin1",
                    "type": "synonym"
                },
                {
                    "name": "Atx-1-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG4547-PB",
                    "type": "synonym"
                },
                {
                    "name": "ataxin 1",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atx-1",
                    "type": "recommended"
                },
                {
                    "name": "Atx-1",
                    "type": "synonym"
                },
                {
                    "name": "CG4547",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4547",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4547",
                    "type": "synonym"
                },
                {
                    "name": "dAtx-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3V7-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15485-1",
            "uniprot_ac": "Q15485",
            "uniprot_id": "FCN2_HUMAN",
            "refseq_ac": "NP_004099",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ficolin-2",
                    "type": "recommended"
                },
                {
                    "name": "37 kDa elastin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Collagen/fibrinogen domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EBP-37",
                    "type": "synonym"
                },
                {
                    "name": "Ficolin-B",
                    "type": "synonym"
                },
                {
                    "name": "Ficolin-beta",
                    "type": "synonym"
                },
                {
                    "name": "Hucolin",
                    "type": "synonym"
                },
                {
                    "name": "L-ficolin",
                    "type": "synonym"
                },
                {
                    "name": "Serum lectin p35",
                    "type": "synonym"
                },
                {
                    "name": "collagen/fibrinogen domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin)",
                    "type": "synonym"
                },
                {
                    "name": "ficolin B",
                    "type": "synonym"
                },
                {
                    "name": "ficolin-2 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "ficolin-beta",
                    "type": "synonym"
                },
                {
                    "name": "serum lectin p35",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FCN2",
                    "type": "recommended"
                },
                {
                    "name": "EBP-37",
                    "type": "synonym"
                },
                {
                    "name": "FCN2",
                    "type": "synonym"
                },
                {
                    "name": "FCNL",
                    "type": "synonym"
                },
                {
                    "name": "P35",
                    "type": "synonym"
                },
                {
                    "name": "ficolin-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15485-1",
            "evidence": [
                {
                    "id": "0050954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050954"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050954"
}