{
    "disease_id": "DOID:0090050",
    "recommended_name": {
        "id": "DOID:0090050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090050",
        "name": "dystonia 27",
        "description": "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."
    },
    "synonyms": [
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia 27",
            "description": "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene."
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "COL6A3 dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia 27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonia type 27",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "dystonic disorder caused by mutation in COL6A3",
            "description": ""
        },
        {
            "id": "MONDO:0014627",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "name": "DYT27",
            "description": ""
        },
        {
            "id": "MIM:616411",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616411",
            "name": "Dystonia 27",
            "description": "Dystonia 27"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090050"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090050",
            "categories": []
        },
        {
            "id": "MONDO:0014627",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014627",
            "categories": []
        },
        {
            "id": "MIM:616411",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616411",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A087WS16-1",
            "uniprot_ac": "A0A087WS16",
            "uniprot_id": "A0A087WS16_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": "Collagen, type VI, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A087WS16-1",
            "evidence": [
                {
                    "id": "0090050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12111-1",
            "uniprot_ac": "P12111",
            "uniprot_id": "CO6A3_HUMAN",
            "refseq_ac": "NP_004360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen VI, alpha-3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A3",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1C",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A3",
                    "type": "synonym"
                },
                {
                    "name": "DYT27",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1C",
                    "type": "synonym"
                },
                {
                    "name": "UCMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12111-1",
            "evidence": [
                {
                    "id": "616411",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616411"
                },
                {
                    "id": "0090050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AHL9-1",
            "uniprot_ac": "A0A8I6AHL9",
            "uniprot_id": "A0A8I6AHL9_RAT",
            "refseq_ac": "NP_001414426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-3(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-3(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-3(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type VI, alpha 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col6a3",
                    "type": "recommended"
                },
                {
                    "name": "Col6a3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AHL9-1",
            "evidence": [
                {
                    "id": "0090050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06826-1",
            "uniprot_ac": "Q06826",
            "uniprot_id": "BMP4_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": "Bone morphogenetic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2B",
                    "type": "synonym"
                },
                {
                    "name": "BMP-4",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp4",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-4",
                    "type": "synonym"
                },
                {
                    "name": "Dvr-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06826-1",
            "evidence": [
                {
                    "id": "0090050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090050"
}