{
    "disease_id": "DOID:0090043", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "autosomal dominant dopa-responsive dystonia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "autosomal dominant Segawa syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "Dopa-responsive dystonia; Segawa syndrome AD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "Segawa syndrome, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "GTPCH1-deficient dopa-responsive dystonia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "DYT5a"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "DRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "HPD with marked diurnal fluctuation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia, DOPA-responsive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "Dopa-responsive dystonia, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "DYT-GCH1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia, progressive, with diurnal variation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia, DOPA-responsive; DRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "hereditary progressive dystonia with marked diurnal fluctuation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia-Parkinsonism with diurnal fluctuation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia, Dopa-responsive, autosomal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "dystonia type 5"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "GTPCH1-deficient DRD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007495", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007495", 
            "name": "GTP cyclohydrolase 1-deficient dopa-responsive dystonia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090043", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090043", 
        "name": "dystonia 5"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0090043#disease-associations", 
            "id": "0090043", 
            "database": "Alliance of Genome Resources"
        }
    ]
}