{
    "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": []
}