{
    "disease_id": "DOID:0060730",
    "recommended_name": {
        "id": "DOID:0060730",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060730",
        "name": "torsion dystonia 1",
        "description": "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0060730",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060730",
            "name": "dystonia musculorum deformans",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset generalized limb-onset dystonia",
            "description": "A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body."
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "DYT-TOR1A",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "DYT1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "EOTD",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Oppenheim dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Oppenheim's dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia musculorum deformans",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia-1, torsion",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early onset primary dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early onset torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset generalised torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset generalized limb-onset dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset generalized torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset primary dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "early-onset torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "idiopathic dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "torsion dystonia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "DYT-TOR1A dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Dyt1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Early-onset Primary dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Early-onset torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "Primary torsion dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia 1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia 1, torsion, Autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia 1, torsion, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "dystonia musculorum deformans 1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "idiopathic dystonia DYT1",
            "description": ""
        },
        {
            "id": "MONDO:0007492",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "name": "torsion dystonia 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:128100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/128100",
            "name": "Dystonia 1, torsion, autosomal dominant",
            "description": "Dystonia 1, torsion, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060730"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060730",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060730",
            "categories": []
        },
        {
            "id": "MONDO:0007492",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007492",
            "categories": []
        },
        {
            "id": "MIM:128100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/128100",
            "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",
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                {
                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER38-1",
            "uniprot_ac": "Q9ER38",
            "uniprot_id": "TOR3A_MOUSE",
            "refseq_ac": "NP_075630",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-3A",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependant interferon responsive",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent interferon-responsive protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 3 member A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-3A precursor",
                    "type": "synonym"
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                {
                    "name": "torsin-3A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor3a",
                    "type": "recommended"
                },
                {
                    "name": "Adir",
                    "type": "synonym"
                },
                {
                    "name": "Tor3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER38-1",
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                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER41-1",
            "uniprot_ac": "Q9ER41",
            "uniprot_id": "TOR1B_MOUSE",
            "refseq_ac": "NP_598434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-1B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase-1B",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 1 member B",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase-1B",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1B precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor1b",
                    "type": "recommended"
                },
                {
                    "name": "2610016F05Rik",
                    "type": "synonym"
                },
                {
                    "name": "DQ1",
                    "type": "synonym"
                },
                {
                    "name": "Tor1b",
                    "type": "synonym"
                },
                {
                    "name": "torsinB",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1J9-1",
            "uniprot_ac": "Q8R1J9",
            "uniprot_id": "TOR2A_MOUSE",
            "refseq_ac": "NP_690013",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Torsin-2A",
                    "type": "recommended"
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                {
                    "name": "Torsin family 2 member A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-2A isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tor2a",
                    "type": "recommended"
                },
                {
                    "name": "Prosalusin",
                    "type": "synonym"
                },
                {
                    "name": "Tor2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1J9-1",
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                {
                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "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"
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                {
                    "name": "torsin-1A precursor",
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                }
            ],
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                    "name": "TOR1A",
                    "type": "recommended"
                },
                {
                    "name": "AMC5",
                    "type": "synonym"
                },
                {
                    "name": "DQ2",
                    "type": "synonym"
                },
                {
                    "name": "DYT1",
                    "type": "synonym"
                },
                {
                    "name": "TA",
                    "type": "synonym"
                },
                {
                    "name": "TOR1A",
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                },
                {
                    "name": "TORA",
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                }
            ],
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                {
                    "id": "128100",
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                },
                {
                    "id": "0060730",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68G38-1",
            "uniprot_ac": "Q68G38",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Torsin-1A",
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                    "name": "3.6.4.-",
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                {
                    "name": "Dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase 1",
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                {
                    "name": "dystonia 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 1, torsion (autosomal dominant",
                    "type": "synonym"
                },
                {
                    "name": "torsin A)",
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                },
                {
                    "name": "torsin ATPase 1",
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                },
                {
                    "name": "torsin A",
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                },
                {
                    "name": "torsin-1A precursor",
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                },
                {
                    "name": "torsin-1A",
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                }
            ],
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                    "name": "Tor1a",
                    "type": "recommended"
                },
                {
                    "name": "Dyt1",
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                },
                {
                    "name": "Tor1a",
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                }
            ],
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                    "id": "0060730",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q6AYR4-1",
            "uniprot_ac": "Q6AYR4",
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            "species": [
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                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "prosalusin",
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                {
                    "name": "torsin-2A precursor",
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                {
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            ],
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                    "name": "Tor2a",
                    "type": "recommended"
                },
                {
                    "name": "Tor2a",
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                }
            ],
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                    "id": "0060730",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M936-1",
            "uniprot_ac": "Q5M936",
            "uniprot_id": "TOR3A_RAT",
            "refseq_ac": "NP_001009683",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Torsin-3A",
                    "type": "recommended"
                },
                {
                    "name": "Torsin family 3 member A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-3A precursor",
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                },
                {
                    "name": "torsin-3A",
                    "type": "synonym"
                }
            ],
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                    "name": "Tor3a",
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                },
                {
                    "name": "Tor3a",
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            ],
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                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07861-1",
            "uniprot_ac": "P07861",
            "uniprot_id": "NEP_RAT",
            "refseq_ac": "NP_036740",
            "glycoprotein": "yes",
            "species": [
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                    "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",
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                }
            ],
            "record_id": "P07861-1",
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                {
                    "id": "0060730",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O77277-1",
            "uniprot_ac": "O77277",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Torsin-like protein",
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                },
                {
                    "name": "CG3024-PB",
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                },
                {
                    "name": "Torsin-PB",
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                },
                {
                    "name": "dtorsin",
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                },
                {
                    "name": "torp4a",
                    "type": "synonym"
                },
                {
                    "name": "torsin, isoform B",
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                },
                {
                    "name": "torsin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Torsin",
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                },
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                    "name": "CG3024",
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                },
                {
                    "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",
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                }
            ],
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                {
                    "id": "0060730",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JU69-1",
            "uniprot_ac": "Q5JU69",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Torsin-2A",
                    "type": "recommended"
                },
                {
                    "name": "Torsin family 2 member A",
                    "type": "synonym"
                },
                {
                    "name": "Torsin-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "prosalusin isoform c precursor",
                    "type": "synonym"
                },
                {
                    "name": "prosalusin",
                    "type": "synonym"
                },
                {
                    "name": "salusin-beta",
                    "type": "synonym"
                },
                {
                    "name": "torsin-2A",
                    "type": "synonym"
                },
                {
                    "name": "torsin-related protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TOR2A",
                    "type": "recommended"
                },
                {
                    "name": "HEMBA1005096",
                    "type": "synonym"
                },
                {
                    "name": "PRO21181",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0218",
                    "type": "synonym"
                },
                {
                    "name": "TOR2A",
                    "type": "synonym"
                },
                {
                    "name": "TORP1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9H497-1",
            "uniprot_ac": "Q9H497",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Torsin-3A",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependant interferon response protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependant interferon responsive",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent interferon-responsive protein",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 3 member A",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "torsin-3A precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-3A",
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                }
            ],
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                {
                    "name": "TOR3A",
                    "type": "recommended"
                },
                {
                    "name": "ADIR2",
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                },
                {
                    "name": "ADIR",
                    "type": "synonym"
                },
                {
                    "name": "TOR3A",
                    "type": "synonym"
                }
            ],
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                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        },
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            "uniprot_canonical_ac": "O14657-1",
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            "refseq_ac": "NP_001304822",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Torsin-1B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Torsin ATPase-1B",
                    "type": "synonym"
                },
                {
                    "name": "Torsin family 1 member B",
                    "type": "synonym"
                },
                {
                    "name": "torsin ATPase-1B",
                    "type": "synonym"
                },
                {
                    "name": "torsin B",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1B isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "torsin-1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOR1B",
                    "type": "recommended"
                },
                {
                    "name": "DQ1",
                    "type": "synonym"
                },
                {
                    "name": "FKSG18",
                    "type": "synonym"
                },
                {
                    "name": "TOR1B",
                    "type": "synonym"
                }
            ],
            "record_id": "O14657-1",
            "evidence": [
                {
                    "id": "0060730",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060730"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060730"
}