{
    "disease_id": "DOID:0050999",
    "recommended_name": {
        "id": "DOID:0050999",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050999",
        "name": "autosomal recessive spinocerebellar ataxia 10",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050999",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050999",
            "name": "SCAR10",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "autosomal recessive spinocerebellar ataxia 10",
            "description": "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene."
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "ANO10 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "SCAR10",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in ANO10",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "autosomal recessive spinocerebellar ataxia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "spinocerebellar ataxia, autosomal recessive type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "name": "spinocerebellar ataxia, autosomal recessive 10",
            "description": ""
        },
        {
            "id": "MIM:613728",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613728",
            "name": "Spinocerebellar ataxia, autosomal recessive, 10",
            "description": "Spinocerebellar ataxia, autosomal recessive, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050999"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050999",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050999",
            "categories": []
        },
        {
            "id": "MONDO:0013392",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013392",
            "categories": []
        },
        {
            "id": "MIM:613728",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613728",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P6G3-1",
            "uniprot_ac": "A0A8M9P6G3",
            "uniprot_id": "A0A8M9P6G3_DANRE",
            "refseq_ac": "XP_021326182",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano10b",
                    "type": "recommended"
                },
                {
                    "name": "ano10b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153923",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P6G3-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V8U5-1",
            "uniprot_ac": "Q4V8U5",
            "uniprot_id": "ANO10_DANRE",
            "refseq_ac": "NP_001025377",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-10",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 16K",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-10",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ano10",
                    "type": "recommended"
                },
                {
                    "name": "ano10a",
                    "type": "synonym"
                },
                {
                    "name": "ano10",
                    "type": "synonym"
                },
                {
                    "name": "fc37b04",
                    "type": "synonym"
                },
                {
                    "name": "tmem16k",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc37b04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114140",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8U5-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BH79-1",
            "uniprot_ac": "Q8BH79",
            "uniprot_id": "ANO10_MOUSE",
            "refseq_ac": "NP_001258802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-10",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 16K",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano10",
                    "type": "recommended"
                },
                {
                    "name": "Ano10",
                    "type": "synonym"
                },
                {
                    "name": "Tmem16k",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BH79-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NW15-1",
            "uniprot_ac": "Q9NW15",
            "uniprot_id": "ANO10_HUMAN",
            "refseq_ac": "NP_001191760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin-10",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 16K",
                    "type": "synonym"
                },
                {
                    "name": "anoctamin-10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 16K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ANO10",
                    "type": "recommended"
                },
                {
                    "name": "ANO10",
                    "type": "synonym"
                },
                {
                    "name": "SCAR10",
                    "type": "synonym"
                },
                {
                    "name": "TMEM16K",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NW15-1",
            "evidence": [
                {
                    "id": "613728",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613728"
                },
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38250-1",
            "uniprot_ac": "P38250",
            "uniprot_id": "IST2_YEAST",
            "refseq_ac": "NP_009643",
            "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": "Increased sodium tolerance protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Ist2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IST2",
                    "type": "recommended"
                },
                {
                    "name": "IST2",
                    "type": "synonym"
                },
                {
                    "name": "YBR0809",
                    "type": "synonym"
                }
            ],
            "record_id": "P38250-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE79-1",
            "uniprot_ac": "A0ABK0LE79",
            "uniprot_id": "A0ABK0LE79_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Ano10",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LE79-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O97132-1",
            "uniprot_ac": "O97132",
            "uniprot_id": "O97132_DROME",
            "refseq_ac": "NP_476777",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anoctamin",
                    "type": "recommended"
                },
                {
                    "name": "Axs-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG9703-PA",
                    "type": "synonym"
                },
                {
                    "name": "aberrant X segregation",
                    "type": "synonym"
                },
                {
                    "name": "abnormal X segregation",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Axs",
                    "type": "recommended"
                },
                {
                    "name": "Axs",
                    "type": "synonym"
                },
                {
                    "name": "CG9703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9703",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9703",
                    "type": "synonym"
                },
                {
                    "name": "axs",
                    "type": "synonym"
                }
            ],
            "record_id": "O97132-1",
            "evidence": [
                {
                    "id": "0050999",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050999"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050999"
}