{
    "disease_id": "DOID:0060937",
    "recommended_name": {
        "id": "DOID:0060937",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060937",
        "name": "dystonia 30",
        "description": "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060937",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060937",
            "name": "DYT30",
            "description": ""
        },
        {
            "id": "MONDO:0025691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025691",
            "name": "dystonia 30",
            "description": ""
        },
        {
            "id": "MONDO:0025691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025691",
            "name": "DYT30",
            "description": ""
        },
        {
            "id": "MIM:619291",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619291",
            "name": "Dystonia 30",
            "description": "Dystonia 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060937"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060937",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060937",
            "categories": []
        },
        {
            "id": "MONDO:0025691",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0025691",
            "categories": []
        },
        {
            "id": "MIM:619291",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619291",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q920Q4-1",
            "uniprot_ac": "Q920Q4",
            "uniprot_id": "VPS16_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "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 16 homolog",
                    "type": "recommended"
                },
                {
                    "name": "mVPS16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps16",
                    "type": "recommended"
                }
            ],
            "record_id": "Q920Q4-1",
            "evidence": [
                {
                    "id": "0060937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H269-1",
            "uniprot_ac": "Q9H269",
            "uniprot_id": "VPS16_HUMAN",
            "refseq_ac": "NP_072097",
            "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 16 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS16, CORVET/HOPS core subunit",
                    "type": "synonym"
                },
                {
                    "name": "hVPS16",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 16 homolog",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting protein 16",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 16 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 16 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS16",
                    "type": "recommended"
                },
                {
                    "name": "DYT30",
                    "type": "synonym"
                },
                {
                    "name": "VPS16",
                    "type": "synonym"
                },
                {
                    "name": "hVPS16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H269-1",
            "evidence": [
                {
                    "id": "619291",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619291"
                },
                {
                    "id": "0060937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03308-1",
            "uniprot_ac": "Q03308",
            "uniprot_id": "VPS16_YEAST",
            "refseq_ac": "NP_015280",
            "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": "Vacuolar protein sorting-associated protein 16",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar morphogenesis protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein-targeting protein 16",
                    "type": "synonym"
                },
                {
                    "name": "tethering complex subunit VPS16",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS16",
                    "type": "recommended"
                },
                {
                    "name": "CVT15",
                    "type": "synonym"
                },
                {
                    "name": "SVL6",
                    "type": "synonym"
                },
                {
                    "name": "VAM9",
                    "type": "synonym"
                },
                {
                    "name": "VPS16",
                    "type": "synonym"
                },
                {
                    "name": "VPT16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03308-1",
            "evidence": [
                {
                    "id": "0060937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060937"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHG1-1",
            "uniprot_ac": "Q9VHG1",
            "uniprot_id": "VPS16_DROME",
            "refseq_ac": "NP_649877",
            "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 16 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG8454-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein maroon",
                    "type": "synonym"
                },
                {
                    "name": "Vps16A-PA",
                    "type": "synonym"
                },
                {
                    "name": "maroon",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 16A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps16A",
                    "type": "recommended"
                },
                {
                    "name": "CG8454",
                    "type": "synonym"
                },
                {
                    "name": "DmVps16",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8454",
                    "type": "synonym"
                },
                {
                    "name": "V16",
                    "type": "synonym"
                },
                {
                    "name": "Vps16A",
                    "type": "synonym"
                },
                {
                    "name": "Vps16a",
                    "type": "synonym"
                },
                {
                    "name": "Vps16",
                    "type": "synonym"
                },
                {
                    "name": "dVps16A",
                    "type": "synonym"
                },
                {
                    "name": "ma",
                    "type": "synonym"
                },
                {
                    "name": "vps16A",
                    "type": "synonym"
                },
                {
                    "name": "vps16a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHG1-1",
            "evidence": [
                {
                    "id": "0060937",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060937"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060937"
}