{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0051059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051059",
            "categories": []
        },
        {
            "id": "MONDO:0011551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011551",
            "categories": []
        },
        {
            "id": "MIM:605407",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605407",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P24529-1",
            "uniprot_ac": "P24529",
            "uniprot_id": "TY3H_MOUSE",
            "refseq_ac": "NP_033403",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine 3-monooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.16.2",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Th",
                    "type": "recommended"
                },
                {
                    "name": "Th",
                    "type": "synonym"
                }
            ],
            "record_id": "P24529-1",
            "evidence": [
                {
                    "id": "0051059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07101-1",
            "uniprot_ac": "P07101",
            "uniprot_id": "TY3H_HUMAN",
            "refseq_ac": "NP_000351",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine 3-monooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.16.2",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "dystonia 14",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase isoform b",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TH",
                    "type": "recommended"
                },
                {
                    "name": "DYT14",
                    "type": "synonym"
                },
                {
                    "name": "DYT5b",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "TYH",
                    "type": "synonym"
                }
            ],
            "record_id": "P07101-1",
            "evidence": [
                {
                    "id": "605407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605407"
                },
                {
                    "id": "0051059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04177-1",
            "uniprot_ac": "P04177",
            "uniprot_id": "TY3H_RAT",
            "refseq_ac": "NP_036872",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine 3-monooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.16.2",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Th",
                    "type": "recommended"
                },
                {
                    "name": "The",
                    "type": "synonym"
                },
                {
                    "name": "Th",
                    "type": "synonym"
                }
            ],
            "record_id": "P04177-1",
            "evidence": [
                {
                    "id": "0051059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051059"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18459-1",
            "uniprot_ac": "P18459",
            "uniprot_id": "TY3H_DROME",
            "refseq_ac": "NP_001286955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine 3-monooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.16.2",
                    "type": "synonym"
                },
                {
                    "name": "CG10118-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein Pale",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine 3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-3-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "XBB70 group VII",
                    "type": "synonym"
                },
                {
                    "name": "drosophila tyrosine hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "pale, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "pale",
                    "type": "synonym"
                },
                {
                    "name": "ple-PC",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine 3-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine hydrodroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosone hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ple",
                    "type": "recommended"
                },
                {
                    "name": "CG10118",
                    "type": "synonym"
                },
                {
                    "name": "DH65B",
                    "type": "synonym"
                },
                {
                    "name": "DTH",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10118",
                    "type": "synonym"
                },
                {
                    "name": "Pale",
                    "type": "synonym"
                },
                {
                    "name": "Ple",
                    "type": "synonym"
                },
                {
                    "name": "TH",
                    "type": "synonym"
                },
                {
                    "name": "Th",
                    "type": "synonym"
                },
                {
                    "name": "TyrH",
                    "type": "synonym"
                },
                {
                    "name": "VII",
                    "type": "synonym"
                },
                {
                    "name": "dTH1",
                    "type": "synonym"
                },
                {
                    "name": "dTH65B",
                    "type": "synonym"
                },
                {
                    "name": "pale/ple",
                    "type": "synonym"
                },
                {
                    "name": "ple",
                    "type": "synonym"
                },
                {
                    "name": "th",
                    "type": "synonym"
                }
            ],
            "record_id": "P18459-1",
            "evidence": [
                {
                    "id": "0051059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051059"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051059"
}