{
    "disease_id": "DOID:0060939",
    "recommended_name": {
        "id": "DOID:0060939",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060939",
        "name": "dystonia 32",
        "description": "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060939",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060939",
            "name": "DYT32",
            "description": ""
        },
        {
            "id": "MONDO:0030486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030486",
            "name": "dystonia 32",
            "description": ""
        },
        {
            "id": "MONDO:0030486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030486",
            "name": "DYT32",
            "description": ""
        },
        {
            "id": "MIM:619637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619637",
            "name": "Dystonia 32",
            "description": "Dystonia 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060939"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060939",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060939",
            "categories": []
        },
        {
            "id": "MONDO:0030486",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030486",
            "categories": []
        },
        {
            "id": "MIM:619637",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619637",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TWK3-1",
            "uniprot_ac": "A0AB32TWK3",
            "uniprot_id": "A0AB32TWK3_DANRE",
            "refseq_ac": "XP_068079913",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps11",
                    "type": "recommended"
                },
                {
                    "name": "vps11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112329",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TWK3-1",
            "evidence": [
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W86-1",
            "uniprot_ac": "Q91W86",
            "uniprot_id": "VPS11_MOUSE",
            "refseq_ac": "NP_082165",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting 11",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "1200011A11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W86-1",
            "evidence": [
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H270-1",
            "uniprot_ac": "Q9H270",
            "uniprot_id": "VPS11_HUMAN",
            "refseq_ac": "NP_001277114",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "RING finger protein 108",
                    "type": "synonym"
                },
                {
                    "name": "VPS11, CORVET/HOPS core subunit",
                    "type": "synonym"
                },
                {
                    "name": "hVPS11",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS11",
                    "type": "recommended"
                },
                {
                    "name": "DYT32",
                    "type": "synonym"
                },
                {
                    "name": "END1",
                    "type": "synonym"
                },
                {
                    "name": "HLD12",
                    "type": "synonym"
                },
                {
                    "name": "PEP5",
                    "type": "synonym"
                },
                {
                    "name": "PP3476",
                    "type": "synonym"
                },
                {
                    "name": "RNF108",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "hVPS11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H270-1",
            "evidence": [
                {
                    "id": "619637",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619637"
                },
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12868-1",
            "uniprot_ac": "P12868",
            "uniprot_id": "PEP5_YEAST",
            "refseq_ac": "NP_013958",
            "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": "E3 ubiquitin-protein ligase PEP5",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Carboxypeptidase Y-deficient protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Histone E3 ligase PEP5",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase PEP5",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar biogenesis protein END1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar morphogenesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting-associated protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 11",
                    "type": "synonym"
                },
                {
                    "name": "tethering complex subunit PEP5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PEP5",
                    "type": "recommended"
                },
                {
                    "name": "END1",
                    "type": "synonym"
                },
                {
                    "name": "PEP5",
                    "type": "synonym"
                },
                {
                    "name": "VAM1",
                    "type": "synonym"
                },
                {
                    "name": "VPL9",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "VPT11",
                    "type": "synonym"
                },
                {
                    "name": "YM9959.13",
                    "type": "synonym"
                }
            ],
            "record_id": "P12868-1",
            "evidence": [
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTB4-1",
            "uniprot_ac": "D3ZTB4",
            "uniprot_id": "D3ZTB4_RAT",
            "refseq_ac": "NP_001101608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS11 CORVET/HOPS core subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 11 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTB4-1",
            "evidence": [
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SX81-1",
            "uniprot_ac": "Q8SX81",
            "uniprot_id": "VPS11_DROME",
            "refseq_ac": "NP_730776",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 11 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG32350-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vps11-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps11",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD20292",
                    "type": "synonym"
                },
                {
                    "name": "CG32350",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32350",
                    "type": "synonym"
                },
                {
                    "name": "VPS11",
                    "type": "synonym"
                },
                {
                    "name": "Vps11",
                    "type": "synonym"
                },
                {
                    "name": "vps11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SX81-1",
            "evidence": [
                {
                    "id": "0060939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060939"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060939"
}