{
    "disease_id": "DOID:0080287",
    "recommended_name": {
        "id": "DOID:0080287",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080287",
        "name": "spinocerebellar ataxia 45",
        "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0033480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033480",
            "name": "spinocerebellar ataxia 45",
            "description": ""
        },
        {
            "id": "MONDO:0033480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033480",
            "name": "spinocerebellar ataxia 45",
            "description": ""
        },
        {
            "id": "MONDO:0033480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033480",
            "name": "SCA45",
            "description": ""
        },
        {
            "id": "MIM:617769",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617769",
            "name": "Spinocerebellar ataxia 45",
            "description": "Spinocerebellar ataxia 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080287"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080287",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080287",
            "categories": []
        },
        {
            "id": "MONDO:0033480",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033480",
            "categories": []
        },
        {
            "id": "MIM:617769",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617769",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FB42-1",
            "uniprot_ac": "E7FB42",
            "uniprot_id": "E7FB42_DANRE",
            "refseq_ac": "XP_001920058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fat2",
                    "type": "recommended"
                },
                {
                    "name": "fat2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FB42-1",
            "evidence": [
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5F226-1",
            "uniprot_ac": "Q5F226",
            "uniprot_id": "FAT2_MOUSE",
            "refseq_ac": "NP_001025159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 2",
                    "type": "recommended"
                },
                {
                    "name": "FAT tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fat2",
                    "type": "recommended"
                },
                {
                    "name": "EMI2",
                    "type": "synonym"
                },
                {
                    "name": "Fat2",
                    "type": "synonym"
                },
                {
                    "name": "Fath2",
                    "type": "synonym"
                },
                {
                    "name": "Gm523",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0811",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0811",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5F226-1",
            "evidence": [
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYQ8-1",
            "uniprot_ac": "Q9NYQ8",
            "uniprot_id": "FAT2_HUMAN",
            "refseq_ac": "NP_001438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 2",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 8",
                    "type": "synonym"
                },
                {
                    "name": "FAT tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 8",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 9",
                    "type": "synonym"
                },
                {
                    "name": "hFat2",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF like domains 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin FAT2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAT2",
                    "type": "recommended"
                },
                {
                    "name": "CDHF8",
                    "type": "synonym"
                },
                {
                    "name": "CDHR9",
                    "type": "synonym"
                },
                {
                    "name": "FAT2",
                    "type": "synonym"
                },
                {
                    "name": "HFAT2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0811",
                    "type": "synonym"
                },
                {
                    "name": "MEGF1",
                    "type": "synonym"
                },
                {
                    "name": "SCA45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYQ8-1",
            "evidence": [
                {
                    "id": "617769",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617769"
                },
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88277-1",
            "uniprot_ac": "O88277",
            "uniprot_id": "FAT2_RAT",
            "refseq_ac": "NP_075243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin Fat 2",
                    "type": "recommended"
                },
                {
                    "name": "FAT tumor suppressor homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "MEGF1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple EGF-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple epidermal growth factor-like domains protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin Fat 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fat2",
                    "type": "recommended"
                },
                {
                    "name": "Fat2",
                    "type": "synonym"
                },
                {
                    "name": "Fath2",
                    "type": "synonym"
                },
                {
                    "name": "Megf1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88277-1",
            "evidence": [
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62275-1",
            "uniprot_ac": "P62275",
            "uniprot_id": "RS29_RAT",
            "refseq_ac": "NP_037008",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein uS14",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S29",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein uS14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ENSRNOG00000070428",
                    "type": "recommended"
                },
                {
                    "name": "Rps29",
                    "type": "recommended"
                },
                {
                    "name": "Rps29",
                    "type": "synonym"
                }
            ],
            "record_id": "P62275-1",
            "evidence": [
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW71-1",
            "uniprot_ac": "Q9VW71",
            "uniprot_id": "FAT2_DROME",
            "refseq_ac": "NP_001027138",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fat-like cadherin-related tumor suppressor homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG7749-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein kugelei",
                    "type": "synonym"
                },
                {
                    "name": "fat-like",
                    "type": "synonym"
                },
                {
                    "name": "fat2",
                    "type": "synonym"
                },
                {
                    "name": "kug-PD",
                    "type": "synonym"
                },
                {
                    "name": "kugelei, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "kugelei",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kug",
                    "type": "recommended"
                },
                {
                    "name": "CG7749",
                    "type": "synonym"
                },
                {
                    "name": "CT23445",
                    "type": "synonym"
                },
                {
                    "name": "Cad76E",
                    "type": "synonym"
                },
                {
                    "name": "DCad76E",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7749",
                    "type": "synonym"
                },
                {
                    "name": "Fat-like",
                    "type": "synonym"
                },
                {
                    "name": "Fat2",
                    "type": "synonym"
                },
                {
                    "name": "Ftl",
                    "type": "synonym"
                },
                {
                    "name": "Kug",
                    "type": "synonym"
                },
                {
                    "name": "RE-A",
                    "type": "synonym"
                },
                {
                    "name": "fat2",
                    "type": "synonym"
                },
                {
                    "name": "fat",
                    "type": "synonym"
                },
                {
                    "name": "ft2",
                    "type": "synonym"
                },
                {
                    "name": "ftl",
                    "type": "synonym"
                },
                {
                    "name": "kug",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW71-1",
            "evidence": [
                {
                    "id": "0080287",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080287"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080287"
}