{
    "disease_id": "DOID:0050946",
    "recommended_name": {
        "id": "DOID:0050946",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050946",
        "name": "Charlevoix-Saguenay spastic ataxia",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "Charlevoix-Saguenay spastic ataxia",
            "description": "Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy."
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "ARSACS",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "Charlevoix-Saguenay spastic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "SPAX6",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "autosomal recessive spastic ataxia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "sacs",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia Charlevoix-Saguenay type",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia of Charlevoix-Saguenay",
            "description": ""
        },
        {
            "id": "MONDO:0010041",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "name": "spastic ataxia, Charlevoix-Saguenay type",
            "description": ""
        },
        {
            "id": "MIM:270550",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/270550",
            "name": "Spastic ataxia Charlevoix-Saguenay type",
            "description": "Spastic ataxia Charlevoix-Saguenay type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050946"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050946",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050946",
            "categories": []
        },
        {
            "id": "MONDO:0010041",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010041",
            "categories": []
        },
        {
            "id": "MIM:270550",
            "database": "MIM",
            "url": "https://www.omim.org/entry/270550",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3APK9-1",
            "uniprot_ac": "A0A8M3APK9",
            "uniprot_id": "A0A8M3APK9_DANRE",
            "refseq_ac": "XP_009289776",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sacsin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "sacsin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sacs",
                    "type": "recommended"
                },
                {
                    "name": "sacs",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3APK9-1",
            "evidence": [
                {
                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IK06-1",
            "uniprot_ac": "A0A0R4IK06",
            "uniprot_id": "A0A0R4IK06_DANRE",
            "refseq_ac": "NP_001096142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rabankyrin-5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rabankyrin-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ankfy1",
                    "type": "recommended"
                },
                {
                    "name": "ankfy1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb69g03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IK06-1",
            "evidence": [
                {
                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLC8-1",
            "uniprot_ac": "Q9JLC8",
            "uniprot_id": "SACS_MOUSE",
            "refseq_ac": "NP_766397",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sacsin",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 29",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 29",
                    "type": "synonym"
                },
                {
                    "name": "sacsin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sacs",
                    "type": "recommended"
                },
                {
                    "name": "A230052M14",
                    "type": "synonym"
                },
                {
                    "name": "DNAJC29",
                    "type": "synonym"
                },
                {
                    "name": "Dnajc29",
                    "type": "synonym"
                },
                {
                    "name": "E130115J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0730",
                    "type": "synonym"
                },
                {
                    "name": "Sacs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLC8-1",
            "evidence": [
                {
                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q810B6-1",
            "uniprot_ac": "Q810B6",
            "uniprot_id": "ANFY1_MOUSE",
            "refseq_ac": "NP_033801",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ankyrin repeat and FYVE domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeats hooked to a zinc finger motif",
                    "type": "synonym"
                },
                {
                    "name": "Rab5-binding and ankyrin repeats-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Rabankyrin-5",
                    "type": "synonym"
                },
                {
                    "name": "Rank-5",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat and FYVE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat hooked to a zinc finger motif",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat hooked to zinc finger motif",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeats hooked to a zinc finger motif",
                    "type": "synonym"
                },
                {
                    "name": "rab5-binding and ankyrin repeats-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "rank-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ankfy1",
                    "type": "recommended"
                },
                {
                    "name": "Ankfy1",
                    "type": "synonym"
                },
                {
                    "name": "Ankhzn",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1255",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE14",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1255",
                    "type": "synonym"
                }
            ],
            "record_id": "Q810B6-1",
            "evidence": [
                {
                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZJ4-1",
            "uniprot_ac": "Q9NZJ4",
            "uniprot_id": "SACS_HUMAN",
            "refseq_ac": "NP_055178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sacsin",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 29",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 29",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 138",
                    "type": "synonym"
                },
                {
                    "name": "sacsin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spastic ataxia of Charlevoix-Saguenay (sacsin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SACS",
                    "type": "recommended"
                },
                {
                    "name": "ARSACS",
                    "type": "synonym"
                },
                {
                    "name": "DNAJC29",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0730",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R138",
                    "type": "synonym"
                },
                {
                    "name": "SACS",
                    "type": "synonym"
                },
                {
                    "name": "SPAX6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZJ4-1",
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                {
                    "id": "270550",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/270550"
                },
                {
                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1D3-1",
            "uniprot_ac": "D4A1D3",
            "uniprot_id": "D4A1D3_RAT",
            "refseq_ac": "XP_006252229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sacsin",
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                },
                {
                    "name": "DnaJ homolog subfamily C member 29",
                    "type": "synonym"
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                {
                    "name": "sacsin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sacs",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305416",
                    "type": "synonym"
                },
                {
                    "name": "Sacs",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A1D3-1",
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                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y6Q8-1",
            "uniprot_ac": "A0A8I5Y6Q8",
            "uniprot_id": "A0A8I5Y6Q8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Ankyrin repeat and FYVE domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Ankyrin repeats hooked to a zinc finger motif",
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                },
                {
                    "name": "Rab5-binding and ankyrin repeats-containing protein",
                    "type": "synonym"
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            ],
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                {
                    "name": "Ankfy1",
                    "type": "recommended"
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            ],
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                {
                    "id": "0050946",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7PLP5-1",
            "uniprot_ac": "Q7PLP5",
            "uniprot_id": "Q7PLP5_DROME",
            "refseq_ac": "NP_001015359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rabankyrin-5",
                    "type": "recommended"
                },
                {
                    "name": "CG41099-PC",
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                {
                    "name": "D-Rabankyrin",
                    "type": "synonym"
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                {
                    "name": "Rabankyrin-5",
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                {
                    "name": "rabankyrin",
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                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEST:GM10035",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG41099",
                    "type": "recommended"
                },
                {
                    "name": "GM10035",
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                {
                    "name": "BEST:GM10035",
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                {
                    "name": "CG17416",
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                },
                {
                    "name": "CG17419",
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                    "name": "CG41099",
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                    "name": "Dmel\\CG41099",
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                    "name": "Dmel_CG41099",
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                {
                    "name": "FBgn0039955",
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                },
                {
                    "name": "GM10035",
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                {
                    "name": "Rabankyrin",
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                    "id": "0050946",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9P2R3-1",
            "uniprot_ac": "Q9P2R3",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "Ankyrin repeat and FYVE domain-containing protein 1",
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                {
                    "name": "Ankyrin repeats hooked to a zinc finger motif",
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                    "name": "Rab5-binding and ankyrin repeats-containing protein",
                    "type": "synonym"
                },
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                    "name": "Rabankyrin-5",
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                    "name": "Rank-5",
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                {
                    "name": "ankyrin repeat and FYVE domain-containing protein 1 isoform 3",
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                    "name": "ankyrin repeat and FYVE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat hooked to zinc finger motif",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeats hooked to a zinc finger motif",
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                {
                    "name": "rab5-binding and ankyrin repeats-containing protein",
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                    "name": "rank-5",
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                }
            ],
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                {
                    "name": "ANKFY1",
                    "type": "recommended"
                },
                {
                    "name": "ANKFY1",
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                },
                {
                    "name": "ANKHZN",
                    "type": "synonym"
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                {
                    "name": "BTBD23",
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                {
                    "name": "KIAA1255",
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                },
                {
                    "name": "ZFYVE14",
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                }
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                    "id": "0050946",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050946"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050946"
}