{
    "disease_id": "DOID:0051059",
    "recommended_name": {
        "id": "DOID:0051059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051059",
        "name": "autosomal recessive Segawa syndrome",
        "description": "A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0051059",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051059",
            "name": "autosomal recessive DOPA-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "TH-deficient dopa-responsive dystonia",
            "description": "Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy."
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "DYT5b",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "Dopa-responsive dystonia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "Segawa syndrome, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "Tyrosine Hydroxylase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "autosomal recessive Segawa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "autosomal recessive dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "dopa-responsive dystonia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "tyrosine hydroxylase-deficient dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "DOPA responsive dystonia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0011551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "name": "dystonia, DOPA responsive, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:605407",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605407",
            "name": "Segawa syndrome autosomal recessive",
            "description": "Segawa syndrome autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051059"
    ],
    "unlinked_id_list": []
}