{
    "disease_id": "DOID:0111618",
    "recommended_name": {
        "id": "DOID:0111618",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111618",
        "name": "autosomal recessive spinocerebellar ataxia 8",
        "description": "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "ARCA1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "Autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "SCAR8",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "autosomal recessive ataxia, Beauce type",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "SYNE1-related autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "DOID:0111618",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "name": "recessive ataxia of Beauce",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive ataxia, Beauce type",
            "description": "A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations."
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "ARCA1",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "SCAR8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia, autosomal recessive type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "SYNE1-related autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive ataxia Beauce type",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "autosomal recessive spinocerebellar ataxia 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "recessive ataxia of Beauce",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MONDO:0012549",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "name": "spinocerebellar ataxia, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MIM:610743",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610743",
            "name": "Spinocerebellar ataxia, autosomal recessive, 8",
            "description": "Spinocerebellar ataxia, autosomal recessive, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111618"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111618",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111618",
            "categories": []
        },
        {
            "id": "MONDO:0012549",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012549",
            "categories": []
        },
        {
            "id": "MIM:610743",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610743",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z1N5-1",
            "uniprot_ac": "A0A8M6Z1N5",
            "uniprot_id": "A0A8M6Z1N5_DANRE",
            "refseq_ac": "XP_017207244",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-1",
                    "type": "recommended"
                },
                {
                    "name": "Enaptin",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myocyte nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syne1b",
                    "type": "recommended"
                },
                {
                    "name": "syne1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z1N5-1",
            "evidence": [
                {
                    "id": "0111618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9PC75-1",
            "uniprot_ac": "A0A8M9PC75",
            "uniprot_id": "A0A8M9PC75_DANRE",
            "refseq_ac": "XP_021324303",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syne1a",
                    "type": "recommended"
                },
                {
                    "name": "syne1a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZWR6-1",
            "uniprot_ac": "Q6ZWR6",
            "uniprot_id": "SYNE1_MOUSE",
            "refseq_ac": "NP_001073154",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-1",
                    "type": "recommended"
                },
                {
                    "name": "Enaptin",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "KASH1",
                    "type": "synonym"
                },
                {
                    "name": "Myne-1",
                    "type": "synonym"
                },
                {
                    "name": "Myocyte nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Syne-1",
                    "type": "synonym"
                },
                {
                    "name": "enaptin165",
                    "type": "synonym"
                },
                {
                    "name": "enaptin",
                    "type": "synonym"
                },
                {
                    "name": "myocyte nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Syne1",
                    "type": "recommended"
                },
                {
                    "name": "8B",
                    "type": "synonym"
                },
                {
                    "name": "A330049M09Rik",
                    "type": "synonym"
                },
                {
                    "name": "C130039F11Rik",
                    "type": "synonym"
                },
                {
                    "name": "CPG2",
                    "type": "synonym"
                },
                {
                    "name": "KASH1",
                    "type": "synonym"
                },
                {
                    "name": "Myne1",
                    "type": "synonym"
                },
                {
                    "name": "Syne1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1756",
                    "type": "synonym"
                },
                {
                    "name": "myne-1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111618"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NF91-1",
            "uniprot_ac": "Q8NF91",
            "uniprot_id": "SYNE1_HUMAN",
            "refseq_ac": "NP_892006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-1",
                    "type": "recommended"
                },
                {
                    "name": "CPG2 full length",
                    "type": "synonym"
                },
                {
                    "name": "Enaptin",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "KASH1",
                    "type": "synonym"
                },
                {
                    "name": "Myne-1",
                    "type": "synonym"
                },
                {
                    "name": "Myocyte nuclear envelope protein 1",
                    "type": "synonym"
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                {
                    "name": "Nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 1",
                    "type": "synonym"
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                {
                    "name": "Syne-1",
                    "type": "synonym"
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                {
                    "name": "myocyte nuclear envelope protein 1",
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                },
                {
                    "name": "nesprin-1 isoform 1 (nesprin-1 giant or enaptin)",
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                {
                    "name": "spectrin repeat containing, nuclear envelope 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "synaptic nuclei expressed gene 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SYNE1",
                    "type": "recommended"
                },
                {
                    "name": "8B",
                    "type": "synonym"
                },
                {
                    "name": "AMC3",
                    "type": "synonym"
                },
                {
                    "name": "AMCM",
                    "type": "synonym"
                },
                {
                    "name": "ARCA1",
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                },
                {
                    "name": "C6orf98",
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                    "name": "EDMD4",
                    "type": "synonym"
                },
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                    "name": "KASH1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0796",
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                },
                {
                    "name": "KIAA1262",
                    "type": "synonym"
                },
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                    "name": "KIAA1756",
                    "type": "synonym"
                },
                {
                    "name": "MYNE1",
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                },
                {
                    "name": "Nesp1",
                    "type": "synonym"
                },
                {
                    "name": "SCAR8",
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                },
                {
                    "name": "SYNE1",
                    "type": "synonym"
                },
                {
                    "name": "dJ45H2.2",
                    "type": "synonym"
                }
            ],
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                    "id": "610743",
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                    "id": "0111618",
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            ]
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            "uniprot_canonical_ac": "A0ABK0LEP2-1",
            "uniprot_ac": "A0ABK0LEP2",
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            "refseq_ac": "NP_001406778",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Nesprin-1",
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                },
                {
                    "name": "Myocyte nuclear envelope protein 1",
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                {
                    "name": "Nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
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                {
                    "name": "Synaptic nuclear envelope protein 1",
                    "type": "synonym"
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                {
                    "name": "nesprin-1-like",
                    "type": "synonym"
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                {
                    "name": "nesprin-1",
                    "type": "synonym"
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                {
                    "name": "spectrin repeat containing, nuclear envelope 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Syne1",
                    "type": "recommended"
                },
                {
                    "name": "CPG2",
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                },
                {
                    "name": "Myne-1",
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                },
                {
                    "name": "Syne1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LEP2-1",
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                {
                    "id": "0111618",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MRD1-1",
            "uniprot_ac": "M9MRD1",
            "uniprot_id": "MS300_DROME",
            "refseq_ac": "NP_001188694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Muscle-specific protein 300 kDa",
                    "type": "recommended"
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                    "name": "Box B-binding factor 1",
                    "type": "synonym"
                },
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                    "name": "CG42768-PD",
                    "type": "synonym"
                },
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                    "name": "Msp-300",
                    "type": "synonym"
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                {
                    "name": "Msp300-PD",
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                {
                    "name": "Muscle-specific protein 300 kDa, isoform D",
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                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific protein, 300 kDa",
                    "type": "synonym"
                },
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                    "name": "Muscle-specific protein-300",
                    "type": "synonym"
                },
                {
                    "name": "Nesprin-like protein Msp300",
                    "type": "synonym"
                },
                {
                    "name": "Nesprin1",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)25Ch",
                    "type": "synonym"
                },
                {
                    "name": "nesprin",
                    "type": "synonym"
                },
                {
                    "name": "repetitive ORF",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Msp300",
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                    "name": "BBF-1",
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                },
                {
                    "name": "Bbbf1",
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                {
                    "name": "BcDNA:AT10293",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH02446",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH18470",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP10936",
                    "type": "synonym"
                },
                {
                    "name": "CG14035",
                    "type": "synonym"
                },
                {
                    "name": "CG18251",
                    "type": "synonym"
                },
                {
                    "name": "CG18252",
                    "type": "synonym"
                },
                {
                    "name": "CG31649",
                    "type": "synonym"
                },
                {
                    "name": "CG31916",
                    "type": "synonym"
                },
                {
                    "name": "CG33549",
                    "type": "synonym"
                },
                {
                    "name": "CG33715",
                    "type": "synonym"
                },
                {
                    "name": "CG42768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42768",
                    "type": "synonym"
                },
                {
                    "name": "MSP-300",
                    "type": "synonym"
                },
                {
                    "name": "MSP300",
                    "type": "synonym"
                },
                {
                    "name": "Msp-300",
                    "type": "synonym"
                },
                {
                    "name": "Msp300",
                    "type": "synonym"
                },
                {
                    "name": "Spec25CD",
                    "type": "synonym"
                },
                {
                    "name": "dNesp1",
                    "type": "synonym"
                },
                {
                    "name": "jf22",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Ch",
                    "type": "synonym"
                },
                {
                    "name": "l(2)jf22",
                    "type": "synonym"
                },
                {
                    "name": "msp-300",
                    "type": "synonym"
                },
                {
                    "name": "msp300",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111618",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111618"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111618"
}