{
    "disease_id": "DOID:0090043",
    "recommended_name": {
        "id": "DOID:0090043",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090043",
        "name": "dystonia 5",
        "description": "A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia 5",
            "description": "Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age."
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia 5",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "autosomal dominant dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "autosomal dominant Segawa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "Dopa-responsive dystonia; Segawa syndrome AD",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "Segawa syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "GTPCH1-deficient dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "DYT5a",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "DRD",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "HPD with marked diurnal fluctuation",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia, DOPA-responsive",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "Dopa-responsive dystonia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "DYT-GCH1",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia, progressive, with diurnal variation",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia, DOPA-responsive; DRD",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "hereditary progressive dystonia with marked diurnal fluctuation",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia-Parkinsonism with diurnal fluctuation",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia, Dopa-responsive, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "GTPCH1-deficient DRD",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "GTP cyclohydrolase 1-deficient dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MIM:128230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/128230",
            "name": "Dystonia, dopa-responsive",
            "description": "Dystonia, dopa-responsive"
        }
    ]
}