{
    "disease_id": "DOID:0050959",
    "recommended_name": {
        "id": "DOID:0050959",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050959",
        "name": "spinocerebellar ataxia 8",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012116",
            "name": "spinocerebellar ataxia type 8",
            "description": "Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients."
        },
        {
            "id": "MONDO:0012116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012116",
            "name": "SCA8",
            "description": ""
        },
        {
            "id": "MONDO:0012116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012116",
            "name": "spinocerebellar ataxia type 8",
            "description": ""
        },
        {
            "id": "MONDO:0012116",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012116",
            "name": "spinocerebellar ataxia 8",
            "description": ""
        },
        {
            "id": "MIM:608768",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608768",
            "name": "Spinocerebellar ataxia 8",
            "description": "Spinocerebellar ataxia 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050959"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050959",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050959",
            "categories": []
        },
        {
            "id": "MONDO:0012116",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012116",
            "categories": []
        },
        {
            "id": "MIM:608768",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608768",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q156A1-1",
            "uniprot_ac": "Q156A1",
            "uniprot_id": "ATX8_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-8",
                    "type": "recommended"
                },
                {
                    "name": "Protein 1C2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN8",
                    "type": "recommended"
                }
            ],
            "record_id": "Q156A1-1",
            "evidence": [
                {
                    "id": "608768",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608768"
                },
                {
                    "id": "0050959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050959"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DMR3-1",
            "uniprot_ac": "P0DMR3",
            "uniprot_id": "AT8OS_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative protein ATXN8OS",
                    "type": "recommended"
                },
                {
                    "name": "ATXN8 opposite strand",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia 8",
                    "type": "synonym"
                },
                {
                    "name": "kelch-like 1 antisense",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN8OS",
                    "type": "recommended"
                },
                {
                    "name": "KLHL1AS",
                    "type": "synonym"
                },
                {
                    "name": "SCA8",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DMR3-1",
            "evidence": [
                {
                    "id": "0050959",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050959"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050959"
}