{
    "disease_id": "DOID:0050975",
    "recommended_name": {
        "id": "DOID:0050975",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050975",
        "name": "spinocerebellar ataxia 26",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012246",
            "name": "spinocerebellar ataxia type 26",
            "description": "Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities."
        },
        {
            "id": "MONDO:0012246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012246",
            "name": "SCA26",
            "description": ""
        },
        {
            "id": "MONDO:0012246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012246",
            "name": "spinocerebellar ataxia type 26",
            "description": ""
        },
        {
            "id": "MONDO:0012246",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012246",
            "name": "spinocerebellar ataxia 26",
            "description": ""
        },
        {
            "id": "MIM:609306",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609306",
            "name": "Spinocerebellar ataxia 26",
            "description": "Spinocerebellar ataxia 26"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050975"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050975",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050975",
            "categories": []
        },
        {
            "id": "MONDO:0012246",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012246",
            "categories": []
        },
        {
            "id": "MIM:609306",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609306",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AC58IEY8",
            "uniprot_id": "A0AC58IEY8_DANRE",
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            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Elongation factor 2a.2 isoform X1",
                    "type": "synonym"
                },
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                    "name": "elongation factor 2a.2 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "eef2a.2",
                    "type": "synonym"
                },
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                    "name": "si:dkey-110c1.4",
                    "type": "synonym"
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            ],
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050975"
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                }
            ],
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                    "name": "Elongation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "elongation factor 2",
                    "type": "synonym"
                }
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                    "name": "eef2l2",
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                    "name": "eef2a.1",
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                    "type": "synonym"
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                {
                    "name": "eukaryotic translation elongation factor 2, like",
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                    "name": "eef2b",
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                },
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                    "name": "EEF2",
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                },
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                    "name": "eef2b",
                    "type": "synonym"
                },
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                    "name": "fe49h02",
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                },
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                    "type": "synonym"
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                {
                    "name": "zgc:63584",
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                    "id": "0050975",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
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                },
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                    "name": "elongation factor 2",
                    "type": "synonym"
                }
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                    "name": "Eef2",
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                    "name": "Eef2",
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                    "id": "0050975",
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            ]
        },
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            "uniprot_canonical_ac": "P13639-1",
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                {
                    "name": "Homo sapiens",
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            ],
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                    "name": "Elongation factor 2",
                    "type": "recommended"
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                    "name": "EF-2",
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                    "name": "elongation factor 2",
                    "type": "synonym"
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                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
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                    "name": "polypeptidyl-tRNA translocase",
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                }
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                    "name": "EEF2",
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                    "name": "anon-EST:Liang-1.44",
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                    "name": "chr2L:21668915..21669164",
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                    "id": "0050975",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050975"
}