{
    "disease_id": "DOID:0080063",
    "recommended_name": {
        "id": "DOID:0080063",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080063",
        "name": "autosomal recessive spinocerebellar ataxia 11",
        "description": "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080063",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080063",
            "name": "SCAR11",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "autosomal recessive spinocerebellar ataxia 11",
            "description": "Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene."
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "SCAR11",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "SYT14 autosomal recessive syndromic cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "autosomal recessive spinocerebellar ataxia 11",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "autosomal recessive spinocerebellar ataxia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "spinocerebellar ataxia, autosomal recessive type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "name": "spinocerebellar ataxia, autosomal recessive 11",
            "description": ""
        },
        {
            "id": "MIM:614229",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614229",
            "name": "Spinocerebellar ataxia, autosomal recessive, 11",
            "description": "Spinocerebellar ataxia, autosomal recessive, 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080063"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080063",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080063",
            "categories": []
        },
        {
            "id": "MONDO:0013645",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013645",
            "categories": []
        },
        {
            "id": "MIM:614229",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614229",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TC14-1",
            "uniprot_ac": "A0AB32TC14",
            "uniprot_id": "A0AB32TC14_DANRE",
            "refseq_ac": "XP_068071587",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin-14b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syt14b",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-59d15.2",
                    "type": "synonym"
                },
                {
                    "name": "syt14b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TC14-1",
            "evidence": [
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M6Z9M8-1",
            "uniprot_ac": "A0A8M6Z9M8",
            "uniprot_id": "A0A8M6Z9M8_DANRE",
            "refseq_ac": "XP_017214324",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin-14 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syt14a",
                    "type": "recommended"
                },
                {
                    "name": "syt14a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z9M8-1",
            "evidence": [
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TN84-1",
            "uniprot_ac": "Q7TN84",
            "uniprot_id": "SYT14_MOUSE",
            "refseq_ac": "NP_853524",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin-14",
                    "type": "recommended"
                },
                {
                    "name": "Synaptotagmin XIV",
                    "type": "synonym"
                },
                {
                    "name": "SytXIV",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syt14",
                    "type": "recommended"
                },
                {
                    "name": "B230320I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Syt14",
                    "type": "synonym"
                },
                {
                    "name": "sytXIV",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TN84-1",
            "evidence": [
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NB59-1",
            "uniprot_ac": "Q8NB59",
            "uniprot_id": "SYT14_HUMAN",
            "refseq_ac": "NP_001139734",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin-14",
                    "type": "recommended"
                },
                {
                    "name": "Synaptotagmin XIV",
                    "type": "synonym"
                },
                {
                    "name": "SytXIV",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin XIV",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYT14",
                    "type": "recommended"
                },
                {
                    "name": "SCAR11",
                    "type": "synonym"
                },
                {
                    "name": "SYT14",
                    "type": "synonym"
                },
                {
                    "name": "sytXIV",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NB59-1",
            "evidence": [
                {
                    "id": "614229",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614229"
                },
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AMJ4-1",
            "uniprot_ac": "A0A8I6AMJ4",
            "uniprot_id": "A0A8I6AMJ4_RAT",
            "refseq_ac": "XP_008768117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synaptotagmin 14",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin-14 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syt14",
                    "type": "recommended"
                },
                {
                    "name": "LOC684293",
                    "type": "synonym"
                },
                {
                    "name": "Syt14",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AMJ4-1",
            "evidence": [
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KF61-1",
            "uniprot_ac": "A0A0B4KF61",
            "uniprot_id": "A0A0B4KF61_DROME",
            "refseq_ac": "NP_001262249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG9778-PD",
                    "type": "synonym"
                },
                {
                    "name": "Synaptotagmin 14, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Syt14-PD",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin 14, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "synaptotagmin 14",
                    "type": "synonym"
                },
                {
                    "name": "syt14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syt14",
                    "type": "recommended"
                },
                {
                    "name": "CG9778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9778",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9778",
                    "type": "synonym"
                },
                {
                    "name": "SYT14",
                    "type": "synonym"
                },
                {
                    "name": "Syt 14",
                    "type": "synonym"
                },
                {
                    "name": "Syt14",
                    "type": "synonym"
                },
                {
                    "name": "Syt16",
                    "type": "synonym"
                },
                {
                    "name": "dsyt14",
                    "type": "synonym"
                },
                {
                    "name": "syt14",
                    "type": "synonym"
                },
                {
                    "name": "syt16",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KF61-1",
            "evidence": [
                {
                    "id": "0080063",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080063"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080063"
}