{
    "disease_id": "DOID:0050972",
    "recommended_name": {
        "id": "DOID:0050972",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050972",
        "name": "spinocerebellar ataxia 21",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity."
    },
    "synonyms": [
        {
            "id": "MONDO:0011833",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011833",
            "name": "spinocerebellar ataxia type 21",
            "description": "Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity."
        },
        {
            "id": "MONDO:0011833",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011833",
            "name": "SCA21",
            "description": ""
        },
        {
            "id": "MONDO:0011833",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011833",
            "name": "spinocerebellar ataxia type 21",
            "description": ""
        },
        {
            "id": "MONDO:0011833",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011833",
            "name": "spinocerebellar ataxia 21",
            "description": ""
        },
        {
            "id": "MIM:607454",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607454",
            "name": "Spinocerebellar ataxia 21",
            "description": "Spinocerebellar ataxia 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050972"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050972",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050972",
            "categories": []
        },
        {
            "id": "MONDO:0011833",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011833",
            "categories": []
        },
        {
            "id": "MIM:607454",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607454",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FFC9-1",
            "uniprot_ac": "E7FFC9",
            "uniprot_id": "E7FFC9_DANRE",
            "refseq_ac": "XP_021329364",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 240 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 240 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem240a",
                    "type": "recommended"
                },
                {
                    "name": "tmem240a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FFC9-1",
            "evidence": [
                {
                    "id": "0050972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1RJG4-1",
            "uniprot_ac": "A0A8M1RJG4",
            "uniprot_id": "A0A8M1RJG4_DANRE",
            "refseq_ac": "XP_003200960",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 240 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 240 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem240b",
                    "type": "recommended"
                },
                {
                    "name": "tmem240b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RJG4-1",
            "evidence": [
                {
                    "id": "0050972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RWJ3-1",
            "uniprot_ac": "B2RWJ3",
            "uniprot_id": "TM240_MOUSE",
            "refseq_ac": "NP_001094976",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 240",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 240",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem240",
                    "type": "recommended"
                },
                {
                    "name": "EG381582",
                    "type": "synonym"
                },
                {
                    "name": "Gm5151",
                    "type": "synonym"
                },
                {
                    "name": "Tmem240",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RWJ3-1",
            "evidence": [
                {
                    "id": "0050972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SV17-1",
            "uniprot_ac": "Q5SV17",
            "uniprot_id": "TM240_HUMAN",
            "refseq_ac": "NP_001108220",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 240",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane protein 240",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C1orf70",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM240",
                    "type": "recommended"
                },
                {
                    "name": "C1orf70",
                    "type": "synonym"
                },
                {
                    "name": "SCA21",
                    "type": "synonym"
                },
                {
                    "name": "TMEM240",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SV17-1",
            "evidence": [
                {
                    "id": "607454",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607454"
                },
                {
                    "id": "0050972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHR1-1",
            "uniprot_ac": "A0ABK0LHR1",
            "uniprot_id": "A0ABK0LHR1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 240",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem240",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LHR1-1",
            "evidence": [
                {
                    "id": "0050972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050972"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050972"
}