{
    "disease_id": "DOID:0080064",
    "recommended_name": {
        "id": "DOID:0080064",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080064",
        "name": "autosomal recessive spinocerebellar ataxia 17",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080064",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080064",
            "name": "SCAR17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive spinocerebellar ataxia 17",
            "description": "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene."
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "CWF19L1 autosomal recessive congenital cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "SCAR17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "autosomal recessive spinocerebellar ataxia type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia autosomal recessive type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia, autosomal recessive type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014503",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "name": "spinocerebellar ataxia, autosomal recessive 17",
            "description": ""
        },
        {
            "id": "MIM:616127",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616127",
            "name": "Spinocerebellar ataxia, autosomal recessive, 17",
            "description": "Spinocerebellar ataxia, autosomal recessive, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080064"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080064",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080064",
            "categories": []
        },
        {
            "id": "MONDO:0014503",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014503",
            "categories": []
        },
        {
            "id": "MIM:616127",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616127",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RGJ5-1",
            "uniprot_ac": "Q5RGJ5",
            "uniprot_id": "C19L1_DANRE",
            "refseq_ac": "NP_001038223",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWF19-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CWF19-like 1, cell cycle control",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cwf19l1",
                    "type": "recommended"
                },
                {
                    "name": "cwf19l1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb1004",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-234f20.6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153338",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGJ5-1",
            "evidence": [
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CI33-1",
            "uniprot_ac": "Q8CI33",
            "uniprot_id": "C19L1_MOUSE",
            "refseq_ac": "NP_001074546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWF19-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CWF19-like 1, cell cycle control",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cwf19l1",
                    "type": "recommended"
                },
                {
                    "name": "Cwf19l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CI33-1",
            "evidence": [
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q69YN2-1",
            "uniprot_ac": "Q69YN2",
            "uniprot_id": "C19L1_HUMAN",
            "refseq_ac": "NP_001290333",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWF19-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "C19L1",
                    "type": "synonym"
                },
                {
                    "name": "CWF19 like 1, cell cycle control",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like 1 cell cycle control",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "human Dbr1 associated ribonuclease 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CWF19L1",
                    "type": "recommended"
                },
                {
                    "name": "C19L1",
                    "type": "synonym"
                },
                {
                    "name": "CWF19L1",
                    "type": "synonym"
                },
                {
                    "name": "SCAR17",
                    "type": "synonym"
                },
                {
                    "name": "hDrn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69YN2-1",
            "evidence": [
                {
                    "id": "616127",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616127"
                },
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53255-1",
            "uniprot_ac": "P53255",
            "uniprot_id": "DRN1_YEAST",
            "refseq_ac": "NP_011607",
            "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": "CWF19-like protein DRN1",
                    "type": "recommended"
                },
                {
                    "name": "Debranching enzyme-associated ribonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "Drn1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DRN1",
                    "type": "recommended"
                },
                {
                    "name": "DRN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53255-1",
            "evidence": [
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z863-1",
            "uniprot_ac": "D3Z863",
            "uniprot_id": "D3Z863_RAT",
            "refseq_ac": "NP_001102398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWF19-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CWF19-like 1, cell cycle control",
                    "type": "synonym"
                },
                {
                    "name": "CWF19-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cwf19l1",
                    "type": "recommended"
                },
                {
                    "name": "Cwf19l1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z863-1",
            "evidence": [
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8J0-1",
            "uniprot_ac": "A1Z8J0",
            "uniprot_id": "C19L1_DROME",
            "refseq_ac": "NP_610670",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CWF19-like protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG7741-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7741",
                    "type": "recommended"
                },
                {
                    "name": "CG7741",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7741",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7741",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8J0-1",
            "evidence": [
                {
                    "id": "0080064",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080064"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080064"
}