{
    "disease_id": "DOID:0050836",
    "recommended_name": {
        "id": "DOID:0050836",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050836",
        "name": "focal dystonia",
        "description": "A dystonia that is localized to a specific part of the body."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050840",
            "label": "cervical dystonia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090052",
            "label": "dystonia 24",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090057",
            "label": "X-linked dystonia-parkinsonism",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:529",
            "label": "blepharospasm",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:529",
        "DOID:0090052",
        "DOID:0050836",
        "DOID:0090057",
        "DOID:0050840"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050836",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050836",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ER39-1",
            "uniprot_ac": "Q9ER39",
            "uniprot_id": "TOR1A_MOUSE",
            "refseq_ac": "NP_659133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 1 member A",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin family 1 member A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor1a",
                    "type": "recommended"
                },
                {
                    "name": "DQ2",
                    "type": "synonym"
                },
                {
                    "name": "Dyt1",
                    "type": "synonym"
                },
                {
                    "name": "Tor1a",
                    "type": "synonym"
                },
                {
                    "name": "torsinA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER39-1",
            "evidence": [
                {
                    "id": "0050836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68G38-1",
            "uniprot_ac": "Q68G38",
            "uniprot_id": "TOR1A_RAT",
            "refseq_ac": "NP_695215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1, torsion (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "torsin A)",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor1a",
                    "type": "recommended"
                },
                {
                    "name": "Dyt1",
                    "type": "synonym"
                },
                {
                    "name": "Tor1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68G38-1",
            "evidence": [
                {
                    "id": "0050836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07861-1",
            "uniprot_ac": "P07861",
            "uniprot_id": "NEP_RAT",
            "refseq_ac": "NP_036740",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neprilysin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.11",
                    "type": "synonym"
                },
                {
                    "name": "Atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Enkephalinase",
                    "type": "synonym"
                },
                {
                    "name": "NEP",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "Neutral endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                },
                {
                    "name": "Skin fibroblast elastase",
                    "type": "synonym"
                },
                {
                    "name": "atriopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "membrane metallo-endopeptidase (neutral endopeptidase/enkephalinase)",
                    "type": "synonym"
                },
                {
                    "name": "neprilysin",
                    "type": "synonym"
                },
                {
                    "name": "neutral endopeptidase 24.11",
                    "type": "synonym"
                },
                {
                    "name": "skin fibroblast elastase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mme",
                    "type": "recommended"
                },
                {
                    "name": "CD10",
                    "type": "synonym"
                },
                {
                    "name": "Mme",
                    "type": "synonym"
                },
                {
                    "name": "Nep",
                    "type": "synonym"
                },
                {
                    "name": "SFE",
                    "type": "synonym"
                }
            ],
            "record_id": "P07861-1",
            "evidence": [
                {
                    "id": "0050836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O77277-1",
            "uniprot_ac": "O77277",
            "uniprot_id": "TORS_DROME",
            "refseq_ac": "NP_001284866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG3024-PB",
                    "type": "synonym"
                },
                {
                    "name": "Torsin-PB",
                    "type": "synonym"
                },
                {
                    "name": "dtorsin",
                    "type": "synonym"
                },
                {
                    "name": "torp4a",
                    "type": "synonym"
                },
                {
                    "name": "torsin, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "torsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Torsin",
                    "type": "recommended"
                },
                {
                    "name": "CG3024",
                    "type": "synonym"
                },
                {
                    "name": "DTor",
                    "type": "synonym"
                },
                {
                    "name": "DmTorp4a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3024",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3024",
                    "type": "synonym"
                },
                {
                    "name": "EG:84H4.1",
                    "type": "synonym"
                },
                {
                    "name": "TORP4A",
                    "type": "synonym"
                },
                {
                    "name": "Torp4a",
                    "type": "synonym"
                },
                {
                    "name": "Torsin",
                    "type": "synonym"
                },
                {
                    "name": "dTor",
                    "type": "synonym"
                },
                {
                    "name": "dtorsin",
                    "type": "synonym"
                },
                {
                    "name": "dtor",
                    "type": "synonym"
                },
                {
                    "name": "torp4a",
                    "type": "synonym"
                },
                {
                    "name": "torsin",
                    "type": "synonym"
                }
            ],
            "record_id": "O77277-1",
            "evidence": [
                {
                    "id": "0050836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050836"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14656-1",
            "uniprot_ac": "O14656",
            "uniprot_id": "TOR1A_HUMAN",
            "refseq_ac": "NP_000104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1A",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase-1A",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 1 member A",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1, torsion (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "torsin A)",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase 1",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase-1A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1A precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOR1A",
                    "type": "recommended"
                },
                {
                    "name": "AMC5",
                    "type": "synonym"
                },
                {
                    "name": "DQ2",
                    "type": "synonym"
                },
                {
                    "name": "DYT1",
                    "type": "synonym"
                },
                {
                    "name": "TA",
                    "type": "synonym"
                },
                {
                    "name": "TOR1A",
                    "type": "synonym"
                },
                {
                    "name": "TORA",
                    "type": "synonym"
                }
            ],
            "record_id": "O14656-1",
            "evidence": [
                {
                    "id": "0050836",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050836"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050836"
}