{
    "disease_id": "DOID:0111746",
    "recommended_name": {
        "id": "DOID:0111746",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111746",
        "name": "cerebellar ataxia type 48",
        "description": "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111746",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111746",
            "name": "SCA48",
            "description": ""
        },
        {
            "id": "MONDO:0032526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032526",
            "name": "spinocerebellar ataxia 48",
            "description": ""
        },
        {
            "id": "MONDO:0032526",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032526",
            "name": "SCA48",
            "description": ""
        },
        {
            "id": "MIM:618093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618093",
            "name": "Spinocerebellar ataxia 48",
            "description": "Spinocerebellar ataxia 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111746"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111746",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111746",
            "categories": []
        },
        {
            "id": "MONDO:0032526",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032526",
            "categories": []
        },
        {
            "id": "MIM:618093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q8K3-1",
            "uniprot_ac": "F1Q8K3",
            "uniprot_id": "F1Q8K3_DANRE",
            "refseq_ac": "NP_955968",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CHIP",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U box-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "stub1",
                    "type": "recommended"
                },
                {
                    "name": "stub1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc22f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56076",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q8K3-1",
            "evidence": [
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUD1-1",
            "uniprot_ac": "Q9WUD1",
            "uniprot_id": "CHIP_MOUSE",
            "refseq_ac": "NP_062693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U box-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stub1",
                    "type": "recommended"
                },
                {
                    "name": "0610033N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "2210017D18Rik",
                    "type": "synonym"
                },
                {
                    "name": "2310040B03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Chip",
                    "type": "synonym"
                },
                {
                    "name": "Stub1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUD1-1",
            "evidence": [
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UNE7-1",
            "uniprot_ac": "Q9UNE7",
            "uniprot_id": "CHIP_HUMAN",
            "refseq_ac": "NP_001280126",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Antigen NY-CO-7",
                    "type": "synonym"
                },
                {
                    "name": "CLL-associated antigen KW-8",
                    "type": "synonym"
                },
                {
                    "name": "Carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CHIP isoform b",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U box-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-7",
                    "type": "synonym"
                },
                {
                    "name": "carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein A binding protein 2 (c-terminal)",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined colon cancer antigen 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STUB1",
                    "type": "recommended"
                },
                {
                    "name": "CHIP",
                    "type": "synonym"
                },
                {
                    "name": "HSPABP2",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-7",
                    "type": "synonym"
                },
                {
                    "name": "PP1131",
                    "type": "synonym"
                },
                {
                    "name": "SCA48",
                    "type": "synonym"
                },
                {
                    "name": "SCAR16",
                    "type": "synonym"
                },
                {
                    "name": "SDCCAG7",
                    "type": "synonym"
                },
                {
                    "name": "STUB1",
                    "type": "synonym"
                },
                {
                    "name": "UBOX1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UNE7-1",
            "evidence": [
                {
                    "id": "618093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618093"
                },
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25638-1",
            "uniprot_ac": "P25638",
            "uniprot_id": "TAH1_YEAST",
            "refseq_ac": "NP_009986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "TPR repeat-containing protein associated with Hsp90",
                    "type": "recommended"
                },
                {
                    "name": "Tah1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAH1",
                    "type": "recommended"
                },
                {
                    "name": "TAH1",
                    "type": "synonym"
                },
                {
                    "name": "YCR60W",
                    "type": "synonym"
                }
            ],
            "record_id": "P25638-1",
            "evidence": [
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6HD62-1",
            "uniprot_ac": "A6HD62",
            "uniprot_id": "CHIP_RAT",
            "refseq_ac": "NP_001020796",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U box-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "carboxy terminus of Hsp70-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Stub1",
                    "type": "recommended"
                },
                {
                    "name": "Chip",
                    "type": "synonym"
                },
                {
                    "name": "Stub1",
                    "type": "synonym"
                }
            ],
            "record_id": "A6HD62-1",
            "evidence": [
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XYW6-1",
            "uniprot_ac": "Q9XYW6",
            "uniprot_id": "Q9XYW6_DROME",
            "refseq_ac": "NP_477441",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase CHIP",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG5203-PA",
                    "type": "synonym"
                },
                {
                    "name": "CHIP ortholog",
                    "type": "synonym"
                },
                {
                    "name": "NM 058093.3",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase CHIP",
                    "type": "synonym"
                },
                {
                    "name": "STIP1 homology and U-box containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "STUB1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STUB1",
                    "type": "recommended"
                },
                {
                    "name": "CG5203",
                    "type": "synonym"
                },
                {
                    "name": "CHIP",
                    "type": "synonym"
                },
                {
                    "name": "Chip",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5203",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5203",
                    "type": "synonym"
                },
                {
                    "name": "STUB1",
                    "type": "synonym"
                },
                {
                    "name": "Stub1",
                    "type": "synonym"
                },
                {
                    "name": "dCHIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XYW6-1",
            "evidence": [
                {
                    "id": "0111746",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111746"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111746"
}