{
    "disease_id": "DOID:0060966",
    "recommended_name": {
        "id": "DOID:0060966",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060966",
        "name": "dystonia 22, juvenile-onset",
        "description": "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0957539",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957539",
            "name": "dystonia 22, juvenile-onset",
            "description": ""
        },
        {
            "id": "MIM:620453",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620453",
            "name": "Dystonia 22, juvenile-onset",
            "description": "Dystonia 22, juvenile-onset"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060966"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060966",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060966",
            "categories": []
        },
        {
            "id": "MONDO:0957539",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957539",
            "categories": []
        },
        {
            "id": "MIM:620453",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620453",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TNF8-1",
            "uniprot_ac": "Q7TNF8",
            "uniprot_id": "RIMB1_MOUSE",
            "refseq_ac": "NP_766037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral-type benzodiazepine receptor-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PBR-IP",
                    "type": "synonym"
                },
                {
                    "name": "PRAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral benzodiazepine receptor-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RIM-BP1",
                    "type": "synonym"
                },
                {
                    "name": "RIMS-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TSPO-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "benzodiazapine receptor associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "benzodiazepine receptor associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peripheral benzodiazepine receptor-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peripheral benzodiazepine receptor-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "peripheral-type benzodiazepine receptor-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspoap1",
                    "type": "recommended"
                },
                {
                    "name": "Bzrap1",
                    "type": "synonym"
                },
                {
                    "name": "D230016K05",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0612",
                    "type": "synonym"
                },
                {
                    "name": "PRAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Rbp1",
                    "type": "synonym"
                },
                {
                    "name": "Tspoap1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0612",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TNF8-1",
            "evidence": [
                {
                    "id": "0060966",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060966"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95153-1",
            "uniprot_ac": "O95153",
            "uniprot_id": "RIMB1_HUMAN",
            "refseq_ac": "NP_001248764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral-type benzodiazepine receptor-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PBR-IP",
                    "type": "synonym"
                },
                {
                    "name": "PRAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Peripheral benzodiazepine receptor-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RIM-BP1",
                    "type": "synonym"
                },
                {
                    "name": "RIMS-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TSPO-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "benzodiazapine receptor peripheral-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "benzodiazepine receptor (peripheral) associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peripheral benzodiazepine receptor-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "peripheral-type benzodiazepine receptor-associated protein 1 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "peripheral-type benzodiazepine receptor-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSPOAP1",
                    "type": "recommended"
                },
                {
                    "name": "BZRAP1",
                    "type": "synonym"
                },
                {
                    "name": "DYT22",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0612",
                    "type": "synonym"
                },
                {
                    "name": "PBR-IP",
                    "type": "synonym"
                },
                {
                    "name": "PRAX-1",
                    "type": "synonym"
                },
                {
                    "name": "PRAX1",
                    "type": "synonym"
                },
                {
                    "name": "RBP1",
                    "type": "synonym"
                },
                {
                    "name": "RIM-BP1",
                    "type": "synonym"
                },
                {
                    "name": "RIMBP1",
                    "type": "synonym"
                },
                {
                    "name": "TSPOAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95153-1",
            "evidence": [
                {
                    "id": "620453",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620453"
                },
                {
                    "id": "0060966",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060966"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12234-1",
            "uniprot_ac": "Q12234",
            "uniprot_id": "RUD3_YEAST",
            "refseq_ac": "NP_014859",
            "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": "GRIP domain-containing protein RUD3",
                    "type": "recommended"
                },
                {
                    "name": "Golgin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Relieves USO1-1 transport defect protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Rud3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RUD3",
                    "type": "recommended"
                },
                {
                    "name": "GRP1",
                    "type": "synonym"
                },
                {
                    "name": "RUD3",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12234-1",
            "evidence": [
                {
                    "id": "0060966",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060966"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JIR0-1",
            "uniprot_ac": "Q9JIR0",
            "uniprot_id": "RIMB1_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": "Peripheral-type benzodiazepine receptor-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "PRAX-1",
                    "type": "synonym"
                },
                {
                    "name": "RIM-BP1",
                    "type": "synonym"
                },
                {
                    "name": "RIMS-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TSPO-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspoap1",
                    "type": "recommended"
                },
                {
                    "name": "Bzrap1",
                    "type": "synonym"
                },
                {
                    "name": "Rbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JIR0-1",
            "evidence": [
                {
                    "id": "0060966",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060966"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4JDC9-1",
            "uniprot_ac": "A0A0B4JDC9",
            "uniprot_id": "A0A0B4JDC9_DROME",
            "refseq_ac": "NP_001189227",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG43073-PF",
                    "type": "synonym"
                },
                {
                    "name": "RIM-binding protein, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Rab3-interacting molecule (RIM)-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Rbp-PF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbp",
                    "type": "recommended"
                },
                {
                    "name": "CG14867",
                    "type": "synonym"
                },
                {
                    "name": "CG31302",
                    "type": "synonym"
                },
                {
                    "name": "CG43073",
                    "type": "synonym"
                },
                {
                    "name": "CG5143",
                    "type": "synonym"
                },
                {
                    "name": "CG5152",
                    "type": "synonym"
                },
                {
                    "name": "DRBP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43073",
                    "type": "synonym"
                },
                {
                    "name": "RBP",
                    "type": "synonym"
                },
                {
                    "name": "RIM-BP",
                    "type": "synonym"
                },
                {
                    "name": "Rbp",
                    "type": "synonym"
                },
                {
                    "name": "RimBP",
                    "type": "synonym"
                },
                {
                    "name": "dRIM-BP",
                    "type": "synonym"
                },
                {
                    "name": "drbp",
                    "type": "synonym"
                },
                {
                    "name": "rbp",
                    "type": "synonym"
                },
                {
                    "name": "rim-bp",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4JDC9-1",
            "evidence": [
                {
                    "id": "0060966",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060966"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060966"
}