{
    "disease_id": "DOID:0050957",
    "recommended_name": {
        "id": "DOID:0050957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050957",
        "name": "spinocerebellar ataxia 4",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy that has_material_basis_in heterozygous trinucleotide repeat expansion (GGCn) in the ZFHX3 gene on chromosome 16q22."
    },
    "synonyms": [
        {
            "id": "DOID:0050957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050957",
            "name": "SCA4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia type 4",
            "description": "Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy."
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "SCA4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia 4",
            "description": ""
        },
        {
            "id": "MONDO:0010847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "name": "spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy",
            "description": ""
        },
        {
            "id": "MIM:600223",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600223",
            "name": "Spinocerebellar ataxia 4",
            "description": "Spinocerebellar ataxia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050957"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050957",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050957",
            "categories": []
        },
        {
            "id": "MONDO:0010847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010847",
            "categories": []
        },
        {
            "id": "MIM:600223",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600223",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QI68-1",
            "uniprot_ac": "A0A8M9QI68",
            "uniprot_id": "A0A8M9QI68_DANRE",
            "refseq_ac": "NP_001352117",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AT motif-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "AT-binding transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-fetoprotein enhancer-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfhx3b",
                    "type": "recommended"
                },
                {
                    "name": "fd23d06",
                    "type": "synonym"
                },
                {
                    "name": "fj32b02",
                    "type": "synonym"
                },
                {
                    "name": "im:7148790",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd23d06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj32b02",
                    "type": "synonym"
                },
                {
                    "name": "zfhx3b",
                    "type": "synonym"
                },
                {
                    "name": "zfhx3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QI68-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q7K3-1",
            "uniprot_ac": "F1Q7K3",
            "uniprot_id": "F1Q7K3_DANRE",
            "refseq_ac": "XP_692222",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AT motif-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "AT-binding transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-fetoprotein enhancer-binding protein",
                    "type": "synonym"
                },
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                    "name": "Zinc finger homeodomain protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfhx3a",
                    "type": "recommended"
                },
                {
                    "name": "zfhx3a",
                    "type": "synonym"
                }
            ],
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                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
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            "refseq_ac": "XP_005162803",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AT motif-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "AT-binding transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-fetoprotein enhancer-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zfhx4",
                    "type": "recommended"
                },
                {
                    "name": "zfhx4",
                    "type": "synonym"
                }
            ],
            "record_id": "F6NXU9-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61329-1",
            "uniprot_ac": "Q61329",
            "uniprot_id": "ZFHX3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AT motif-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "AT-binding transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-fetoprotein enhancer-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-3",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfhx3",
                    "type": "recommended"
                },
                {
                    "name": "Atbf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61329-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2MHN3-1",
            "uniprot_ac": "Q2MHN3",
            "uniprot_id": "ZFHX2_MOUSE",
            "refseq_ac": "NP_001034287",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger homeodomain protein 5",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfhx2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1056",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-5",
                    "type": "synonym"
                },
                {
                    "name": "Zfhx2",
                    "type": "synonym"
                },
                {
                    "name": "zfh-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2MHN3-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJN2-1",
            "uniprot_ac": "Q9JJN2",
            "uniprot_id": "ZFHX4_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Zinc finger homeobox protein 4",
                    "type": "recommended"
                },
                {
                    "name": "ZFH-4",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfhx4",
                    "type": "recommended"
                },
                {
                    "name": "Zfh4",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15911-1",
            "uniprot_ac": "Q15911",
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            "refseq_ac": "NP_001158238",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AT motif-binding factor 1",
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                },
                {
                    "name": "AT-binding transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-fetoprotein enhancer-binding protein",
                    "type": "synonym"
                },
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                    "name": "ZFH-3",
                    "type": "synonym"
                },
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                    "name": "Zinc finger homeodomain protein 3",
                    "type": "synonym"
                },
                {
                    "name": "alpha-fetoprotein enhancer binding protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 3 isoform B",
                    "type": "synonym"
                },
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                    "name": "zinc finger homeobox protein 3",
                    "type": "synonym"
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                    "name": "zinc finger homeodomain protein 3",
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                }
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                    "name": "ZFHX3",
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                },
                {
                    "name": "ATBT",
                    "type": "synonym"
                },
                {
                    "name": "ATFB8",
                    "type": "synonym"
                },
                {
                    "name": "C16orf47",
                    "type": "synonym"
                },
                {
                    "name": "EIG20",
                    "type": "synonym"
                },
                {
                    "name": "SCA4",
                    "type": "synonym"
                },
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                    "name": "ZFH-3",
                    "type": "synonym"
                },
                {
                    "name": "ZFHX3",
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                },
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                    "id": "0050957",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Zinc finger homeobox protein 3",
                    "type": "recommended"
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                    "name": "Alpha-fetoprotein enhancer-binding protein",
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                    "name": "Zinc finger homeodomain protein 3",
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                    "id": "0050957",
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                    "name": "Zinc finger homeobox 2",
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            ],
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                    "name": "Zfhx2",
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                    "id": "0050957",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
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                },
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                    "name": "zinc finger homeobox protein 4 isoform 1",
                    "type": "synonym"
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                    "name": "zinc finger homeobox protein 4",
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                    "name": "zinc finger homeodomain 4",
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                }
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                    "name": "Zfhx4",
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            "uniprot_canonical_ac": "P28167-1",
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                    "name": "Drosophila melanogaster",
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                    "name": "Zinc finger homeodomain protein 2",
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                    "name": "Zn finger homeodomain 2, isoform A",
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                    "name": "zinc finger homeodomain 2",
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                {
                    "id": "0050957",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q86UP3-1",
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            "glycoprotein": "yes",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                    "name": "Zinc finger homeobox protein 4",
                    "type": "recommended"
                },
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                    "name": "ZFH-4",
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                },
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                    "name": "Zinc finger homeodomain protein 4",
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                },
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                    "name": "zinc finger homeobox protein 4 isoform 1",
                    "type": "synonym"
                },
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                    "name": "zinc finger homeobox protein 4",
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                    "name": "zinc-finger homeodomain protein 4",
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                    "name": "ZFHX4",
                    "type": "recommended"
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                    "name": "ZFHX4",
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                },
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                    "name": "ZHF4",
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                }
            ],
            "record_id": "Q86UP3-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0A1-1",
            "uniprot_ac": "Q9C0A1",
            "uniprot_id": "ZFHX2_HUMAN",
            "refseq_ac": "NP_207646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ZFH-2",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger homeodomain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeobox protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger homeodomain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 409",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZFHX2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1056",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1762",
                    "type": "synonym"
                },
                {
                    "name": "MARSIS",
                    "type": "synonym"
                },
                {
                    "name": "ZFH-5",
                    "type": "synonym"
                },
                {
                    "name": "ZFH5",
                    "type": "synonym"
                },
                {
                    "name": "ZFHX2",
                    "type": "synonym"
                },
                {
                    "name": "ZNF409",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0A1-1",
            "evidence": [
                {
                    "id": "0050957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050957"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050957"
}