{
    "disease_id": "DOID:0090043",
    "recommended_name": {
        "id": "DOID:0090043",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090043",
        "name": "dopa-responsive dystonia",
        "description": "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "dystonia 5",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "Autosomal dominant Segawa syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "GTPCH1-deficient DRD",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "GTPCH1-deficient dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "HPD with marked diurnal fluctuation",
            "description": ""
        },
        {
            "id": "DOID:0090043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "name": "Hereditary progressive dystonia with marked diurnal fluctuation",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "dystonia 5",
            "description": "An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene."
        },
        {
            "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": "Dopa-responsive dystonia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "GTP cyclohydrolase 1-deficient dopa-responsive dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0007495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "name": "Segawa Syndrome",
            "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": "dystonia 5",
            "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": "dystonia, DOPA-responsive, with or without hyperphenylalaninemia",
            "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, progressive, with diurnal variation",
            "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": "DRD",
            "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": "dystonia, DOPA-responsive",
            "description": ""
        },
        {
            "id": "MIM:128230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/128230",
            "name": "Dystonia, dopa-responsive",
            "description": "Dystonia, dopa-responsive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090043"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090043",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090043",
            "categories": []
        },
        {
            "id": "MONDO:0007495",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007495",
            "categories": []
        },
        {
            "id": "MIM:128230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/128230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FGQ8-1",
            "uniprot_ac": "E7FGQ8",
            "uniprot_id": "E7FGQ8_DANRE",
            "refseq_ac": "NP_001129727",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gch1",
                    "type": "recommended"
                },
                {
                    "name": "gch1a",
                    "type": "synonym"
                },
                {
                    "name": "gch1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc16b10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:195269",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FGQ8-1",
            "evidence": [
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05915-1",
            "uniprot_ac": "Q05915",
            "uniprot_id": "GCH1_MOUSE",
            "refseq_ac": "NP_032128",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gch1",
                    "type": "recommended"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH",
                    "type": "synonym"
                },
                {
                    "name": "GTPCH",
                    "type": "synonym"
                },
                {
                    "name": "Gch1",
                    "type": "synonym"
                },
                {
                    "name": "Gch",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05915-1",
            "evidence": [
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30793-1",
            "uniprot_ac": "P30793",
            "uniprot_id": "GCH1_HUMAN",
            "refseq_ac": "NP_000152",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 14",
                    "type": "synonym"
                },
                {
                    "name": "guanosine 5'-triphosphate cyclohydrolase I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCH1",
                    "type": "recommended"
                },
                {
                    "name": "DYT14",
                    "type": "synonym"
                },
                {
                    "name": "DYT5a",
                    "type": "synonym"
                },
                {
                    "name": "DYT5",
                    "type": "synonym"
                },
                {
                    "name": "GCH1",
                    "type": "synonym"
                },
                {
                    "name": "GCH",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-1",
                    "type": "synonym"
                },
                {
                    "name": "GTPCH1",
                    "type": "synonym"
                },
                {
                    "name": "HPABH4B",
                    "type": "synonym"
                }
            ],
            "record_id": "P30793-1",
            "evidence": [
                {
                    "id": "128230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/128230"
                },
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51601-1",
            "uniprot_ac": "P51601",
            "uniprot_id": "GCH1_YEAST",
            "refseq_ac": "NP_011783",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOL2",
                    "type": "recommended"
                },
                {
                    "name": "FOL2",
                    "type": "synonym"
                },
                {
                    "name": "G9349",
                    "type": "synonym"
                }
            ],
            "record_id": "P51601-1",
            "evidence": [
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22288-1",
            "uniprot_ac": "P22288",
            "uniprot_id": "GCH1_RAT",
            "refseq_ac": "NP_077332",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gch1",
                    "type": "recommended"
                },
                {
                    "name": "GTPCH-1",
                    "type": "synonym"
                },
                {
                    "name": "GTPCH",
                    "type": "synonym"
                },
                {
                    "name": "Gch1",
                    "type": "synonym"
                },
                {
                    "name": "Gch",
                    "type": "synonym"
                }
            ],
            "record_id": "P22288-1",
            "evidence": [
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48596-1",
            "uniprot_ac": "P48596",
            "uniprot_id": "GCH1_DROME",
            "refseq_ac": "NP_523801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP cyclohydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.4.16",
                    "type": "synonym"
                },
                {
                    "name": "CG9441-PC",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I isoform c",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase I",
                    "type": "synonym"
                },
                {
                    "name": "GTP cyclohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "GTP-CH-I",
                    "type": "synonym"
                },
                {
                    "name": "Protein punch",
                    "type": "synonym"
                },
                {
                    "name": "Pu-PC",
                    "type": "synonym"
                },
                {
                    "name": "grape",
                    "type": "synonym"
                },
                {
                    "name": "punch, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "punch",
                    "type": "synonym"
                },
                {
                    "name": "unpigmented",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pu",
                    "type": "recommended"
                },
                {
                    "name": "CG9441",
                    "type": "synonym"
                },
                {
                    "name": "DGTPCH",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9441",
                    "type": "synonym"
                },
                {
                    "name": "GCH1",
                    "type": "synonym"
                },
                {
                    "name": "GTPCH",
                    "type": "synonym"
                },
                {
                    "name": "GTPC",
                    "type": "synonym"
                },
                {
                    "name": "Gch1",
                    "type": "synonym"
                },
                {
                    "name": "Gr",
                    "type": "synonym"
                },
                {
                    "name": "Pu",
                    "type": "synonym"
                },
                {
                    "name": "l(2)57Cf",
                    "type": "synonym"
                },
                {
                    "name": "p[Gr]",
                    "type": "synonym"
                },
                {
                    "name": "upi",
                    "type": "synonym"
                }
            ],
            "record_id": "P48596-1",
            "evidence": [
                {
                    "id": "0090043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090043"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090043"
}