{
    "disease_id": "DOID:0050980",
    "recommended_name": {
        "id": "DOID:0050980",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050980",
        "name": "spinocerebellar ataxia 31",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0007296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "name": "spinocerebellar ataxia type 31",
            "description": "Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties."
        },
        {
            "id": "MONDO:0007296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "name": "SCA31",
            "description": ""
        },
        {
            "id": "MONDO:0007296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "name": "spinocerebellar ataxia type 31",
            "description": ""
        },
        {
            "id": "MONDO:0007296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "name": "spinocerebellar ataxia 16q22-linked",
            "description": ""
        },
        {
            "id": "MONDO:0007296",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "name": "spinocerebellar ataxia 31",
            "description": ""
        },
        {
            "id": "MIM:117210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/117210",
            "name": "Spinocerebellar ataxia 31",
            "description": "Spinocerebellar ataxia 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050980"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050980",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050980",
            "categories": []
        },
        {
            "id": "MONDO:0007296",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007296",
            "categories": []
        },
        {
            "id": "MIM:117210",
            "database": "MIM",
            "url": "https://www.omim.org/entry/117210",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F6F0-1",
            "uniprot_ac": "E7F6F0",
            "uniprot_id": "E7F6F0_DANRE",
            "refseq_ac": "XP_005166509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BEAN1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bean1",
                    "type": "recommended"
                },
                {
                    "name": "bean1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F6F0-1",
            "evidence": [
                {
                    "id": "0050980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EQG5-1",
            "uniprot_ac": "Q9EQG5",
            "uniprot_id": "BEAN1_MOUSE",
            "refseq_ac": "NP_001135396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BEAN1",
                    "type": "recommended"
                },
                {
                    "name": "BEAN",
                    "type": "synonym"
                },
                {
                    "name": "Brain-expressed protein associating with Nedd4",
                    "type": "synonym"
                },
                {
                    "name": "brain-expressed protein associating with Nedd4",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN1",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bean1",
                    "type": "recommended"
                },
                {
                    "name": "Bean1",
                    "type": "synonym"
                },
                {
                    "name": "Bean",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQG5-1",
            "evidence": [
                {
                    "id": "0050980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3B7T3-1",
            "uniprot_ac": "Q3B7T3",
            "uniprot_id": "BEAN1_HUMAN",
            "refseq_ac": "NP_001129578",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BEAN1",
                    "type": "recommended"
                },
                {
                    "name": "BEAN",
                    "type": "synonym"
                },
                {
                    "name": "Brain-expressed protein associating with Nedd4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "brain-expressed protein associating with Nedd4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein BEAN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BEAN1",
                    "type": "recommended"
                },
                {
                    "name": "BEAN1",
                    "type": "synonym"
                },
                {
                    "name": "BEAN",
                    "type": "synonym"
                },
                {
                    "name": "SCA31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B7T3-1",
            "evidence": [
                {
                    "id": "117210",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/117210"
                },
                {
                    "id": "0050980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050980"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LPW7-1",
            "uniprot_ac": "A0ABK0LPW7",
            "uniprot_id": "A0ABK0LPW7_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Brain expressed, associated with NEDD4, 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bean1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LPW7-1",
            "evidence": [
                {
                    "id": "0050980",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050980"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050980"
}