{
    "disease_id": "DOID:0050976",
    "recommended_name": {
        "id": "DOID:0050976",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050976",
        "name": "spinocerebellar ataxia 27A",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0050976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "name": "autosomal dominant congenital nystagmus 4",
            "description": ""
        },
        {
            "id": "DOID:0050976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "name": "congenital nystagmus 4",
            "description": ""
        },
        {
            "id": "DOID:0050976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "name": "spinocerebellar ataxia type 27",
            "description": ""
        },
        {
            "id": "DOID:0050976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "name": "vestibulocerebellar disorder with predominant ocular signs",
            "description": ""
        },
        {
            "id": "DOID:0050976",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "name": "SCA27A",
            "description": ""
        },
        {
            "id": "MONDO:0008654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008654",
            "name": "spinocerebellar ataxia 27A",
            "description": ""
        },
        {
            "id": "MONDO:0008654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008654",
            "name": "NYS4",
            "description": ""
        },
        {
            "id": "MONDO:0008654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008654",
            "name": "NYSTAGMUS 4, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008654",
            "name": "nystagmus 4, congenital, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia type 27",
            "description": "Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia."
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "SCA27",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia type 27",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "cerebellar ataxia autosomal dominant FGF14-related",
            "description": ""
        },
        {
            "id": "MONDO:0012247",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "name": "spinocerebellar ataxia 27",
            "description": ""
        },
        {
            "id": "MIM:193003",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/193003",
            "name": "Spinocerebellar ataxia 27A",
            "description": "Spinocerebellar ataxia 27A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050976"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050976",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050976",
            "categories": []
        },
        {
            "id": "MONDO:0008654",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008654",
            "categories": []
        },
        {
            "id": "MONDO:0012247",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012247",
            "categories": []
        },
        {
            "id": "MIM:193003",
            "database": "MIM",
            "url": "https://www.omim.org/entry/193003",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70379-1",
            "uniprot_ac": "P70379",
            "uniprot_id": "FGF14_MOUSE",
            "refseq_ac": "NP_034331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 14",
                    "type": "recommended"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "FHF-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor homologous factor 4",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 14 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 1b",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor homologous factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf14",
                    "type": "recommended"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "FHF-4",
                    "type": "synonym"
                },
                {
                    "name": "Fgf14",
                    "type": "synonym"
                },
                {
                    "name": "Fgf1b",
                    "type": "synonym"
                },
                {
                    "name": "Fhf4",
                    "type": "synonym"
                },
                {
                    "name": "Tg(tetO-MAPT*P301L)4510Kha",
                    "type": "synonym"
                },
                {
                    "name": "mFHF-4(1B)",
                    "type": "synonym"
                }
            ],
            "record_id": "P70379-1",
            "evidence": [
                {
                    "id": "0050976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92915-1",
            "uniprot_ac": "Q92915",
            "uniprot_id": "FGF14_HUMAN",
            "refseq_ac": "NP_004106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 14",
                    "type": "recommended"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "FHF-4",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast growth factor homologous factor 4",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 14 isoform 1A",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor homologous factor 4",
                    "type": "synonym"
                },
                {
                    "name": "nystagmus 4, congenital autosomal dominant",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF14",
                    "type": "recommended"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "FGF14",
                    "type": "synonym"
                },
                {
                    "name": "FHF-4",
                    "type": "synonym"
                },
                {
                    "name": "FHF4",
                    "type": "synonym"
                },
                {
                    "name": "NYS4",
                    "type": "synonym"
                },
                {
                    "name": "SCA27A",
                    "type": "synonym"
                },
                {
                    "name": "SCA27B",
                    "type": "synonym"
                },
                {
                    "name": "SCA27",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92915-1",
            "evidence": [
                {
                    "id": "193003",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/193003"
                },
                {
                    "id": "0050976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5L7-1",
            "uniprot_ac": "Q8R5L7",
            "uniprot_id": "FGF14_RAT",
            "refseq_ac": "NP_071559",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 14",
                    "type": "recommended"
                },
                {
                    "name": "FGF homologus factor 4b",
                    "type": "synonym"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 14 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor homologous factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf14",
                    "type": "recommended"
                },
                {
                    "name": "FGF-14",
                    "type": "synonym"
                },
                {
                    "name": "Fgf14",
                    "type": "synonym"
                },
                {
                    "name": "Fhf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R5L7-1",
            "evidence": [
                {
                    "id": "0050976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050976"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08689-1",
            "uniprot_ac": "P08689",
            "uniprot_id": "SHBG_RAT",
            "refseq_ac": "NP_036782",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sex hormone-binding globulin",
                    "type": "recommended"
                },
                {
                    "name": "ABP",
                    "type": "synonym"
                },
                {
                    "name": "SBP",
                    "type": "synonym"
                },
                {
                    "name": "SHBG",
                    "type": "synonym"
                },
                {
                    "name": "Sex hormone binding globulin or androgen-binding protein (other gene product from ABP gene)",
                    "type": "synonym"
                },
                {
                    "name": "Sex steroid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Testis-specific androgen-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "androgen binding protein",
                    "type": "synonym"
                },
                {
                    "name": "sex hormone-binding globulin isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "sex steroid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific androgen-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shbg",
                    "type": "recommended"
                },
                {
                    "name": "Abpa",
                    "type": "synonym"
                },
                {
                    "name": "Shbg",
                    "type": "synonym"
                }
            ],
            "record_id": "P08689-1",
            "evidence": [
                {
                    "id": "0050976",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050976"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050976"
}