{
    "disease_id": "DOID:0090038",
    "recommended_name": {
        "id": "DOID:0090038",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090038",
        "name": "torsion dystonia 2",
        "description": "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35."
    },
    "synonyms": [
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "torsion dystonia 2",
            "description": "A dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall."
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "DYT2",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "HPCA dystonic disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "autosomal recessive torsion dystonia 2",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "dystonic disorder caused by mutation in HPCA",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "torsion dystonia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "dystonia 2, torsion, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "dystonia musculorum deformans type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009141",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "name": "torsion dystonia 2, autosomal recessive type",
            "description": ""
        },
        {
            "id": "MIM:224500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224500",
            "name": "Dystonia 2, torsion, autosomal recessive",
            "description": "Dystonia 2, torsion, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090038"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090038",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090038",
            "categories": []
        },
        {
            "id": "MONDO:0009141",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009141",
            "categories": []
        },
        {
            "id": "MIM:224500",
            "database": "MIM",
            "url": "https://www.omim.org/entry/224500",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P84075-1",
            "uniprot_ac": "P84075",
            "uniprot_id": "HPCA_MOUSE",
            "refseq_ac": "NP_001123891",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuron-specific calcium-binding protein hippocalcin",
                    "type": "recommended"
                },
                {
                    "name": "neuron-specific calcium-binding protein hippocalcin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific calcium-binding protein hippocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpca",
                    "type": "recommended"
                },
                {
                    "name": "Hpca",
                    "type": "synonym"
                }
            ],
            "record_id": "P84075-1",
            "evidence": [
                {
                    "id": "0090038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84074-1",
            "uniprot_ac": "P84074",
            "uniprot_id": "HPCA_HUMAN",
            "refseq_ac": "NP_002134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuron-specific calcium-binding protein hippocalcin",
                    "type": "recommended"
                },
                {
                    "name": "Calcium-binding protein BDR-2",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein BDR-2",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 2, torsion (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific calcium-binding protein hippocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPCA",
                    "type": "recommended"
                },
                {
                    "name": "BDR2",
                    "type": "synonym"
                },
                {
                    "name": "DYT2",
                    "type": "synonym"
                },
                {
                    "name": "HPCA",
                    "type": "synonym"
                }
            ],
            "record_id": "P84074-1",
            "evidence": [
                {
                    "id": "224500",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/224500"
                },
                {
                    "id": "0090038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06389-1",
            "uniprot_ac": "Q06389",
            "uniprot_id": "NCS1_YEAST",
            "refseq_ac": "NP_010661",
            "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": "Calcium-binding protein NCS-1",
                    "type": "recommended"
                },
                {
                    "name": "frequenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FRQ1",
                    "type": "recommended"
                },
                {
                    "name": "D9481.6",
                    "type": "synonym"
                },
                {
                    "name": "FRQ1",
                    "type": "synonym"
                },
                {
                    "name": "NCS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06389-1",
            "evidence": [
                {
                    "id": "0090038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P84076-1",
            "uniprot_ac": "P84076",
            "uniprot_id": "HPCA_RAT",
            "refseq_ac": "NP_058818",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neuron-specific calcium-binding protein hippocalcin",
                    "type": "recommended"
                },
                {
                    "name": "P23K",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific calcium-binding protein hippocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpca",
                    "type": "recommended"
                },
                {
                    "name": "Hpca",
                    "type": "synonym"
                }
            ],
            "record_id": "P84076-1",
            "evidence": [
                {
                    "id": "0090038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42325-1",
            "uniprot_ac": "P42325",
            "uniprot_id": "NCAH_DROME",
            "refseq_ac": "NP_788543",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurocalcin homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG7641-PA",
                    "type": "synonym"
                },
                {
                    "name": "DrosNCa",
                    "type": "synonym"
                },
                {
                    "name": "Frequenin3",
                    "type": "synonym"
                },
                {
                    "name": "Nca-PA",
                    "type": "synonym"
                },
                {
                    "name": "neurocalcin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nca",
                    "type": "recommended"
                },
                {
                    "name": "CG7641",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7641",
                    "type": "synonym"
                },
                {
                    "name": "Ncalc",
                    "type": "synonym"
                },
                {
                    "name": "Nca",
                    "type": "synonym"
                },
                {
                    "name": "nca",
                    "type": "synonym"
                }
            ],
            "record_id": "P42325-1",
            "evidence": [
                {
                    "id": "0090038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090038"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090038"
}