{
    "disease_id": "DOID:0111168",
    "recommended_name": {
        "id": "DOID:0111168",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111168",
        "name": "sepiapterin reductase deficiency",
        "description": "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency."
    },
    "synonyms": [
        {
            "id": "DOID:0111168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111168",
            "name": "DRD due to SRD",
            "description": ""
        },
        {
            "id": "DOID:0111168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111168",
            "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111168",
            "name": "SPR deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111168",
            "name": "SRD",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency",
            "description": "Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development."
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "DRD due to SRD",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "DYT-SPR",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "SPR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "SRD",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "Sepiapterin Reductase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "autosomal recessive sepiapterin reductase-deficient DRD",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "dopa-responsive dystonia due to sepiapterin reductase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "name": "sepiapterin reductase deficiency",
            "description": ""
        },
        {
            "id": "MIM:612716",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612716",
            "name": "Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency",
            "description": "Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111168"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111168",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111168",
            "categories": []
        },
        {
            "id": "MONDO:0012994",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012994",
            "categories": []
        },
        {
            "id": "MIM:612716",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612716",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QWX4-1",
            "uniprot_ac": "F1QWX4",
            "uniprot_id": "F1QWX4_DANRE",
            "refseq_ac": "NP_001019601",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spra",
                    "type": "recommended"
                },
                {
                    "name": "fj86h06",
                    "type": "synonym"
                },
                {
                    "name": "spra",
                    "type": "synonym"
                },
                {
                    "name": "spr",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj86h06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112298",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QWX4-1",
            "evidence": [
                {
                    "id": "0111168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64105-1",
            "uniprot_ac": "Q64105",
            "uniprot_id": "SPRE_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                },
                {
                    "name": "SPR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spr",
                    "type": "recommended"
                }
            ],
            "record_id": "Q64105-1",
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                {
                    "id": "0111168",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35270-1",
            "uniprot_ac": "P35270",
            "uniprot_id": "SPRE_HUMAN",
            "refseq_ac": "NP_003115",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                },
                {
                    "name": "SPR",
                    "type": "synonym"
                },
                {
                    "name": "Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 38C, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPR",
                    "type": "recommended"
                },
                {
                    "name": "SDR38C1",
                    "type": "synonym"
                },
                {
                    "name": "SPR",
                    "type": "synonym"
                }
            ],
            "record_id": "P35270-1",
            "evidence": [
                {
                    "id": "612716",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612716"
                },
                {
                    "id": "0111168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40579-1",
            "uniprot_ac": "P40579",
            "uniprot_id": "NRE1_YEAST",
            "refseq_ac": "NP_012301",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Benzil reductase ((S)-benzoin forming) NRE1",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.320",
                    "type": "synonym"
                },
                {
                    "name": "Novel reductase 1",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase family protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NRE1",
                    "type": "recommended"
                },
                {
                    "name": "NRE1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40579-1",
            "evidence": [
                {
                    "id": "0111168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT59-1",
            "uniprot_ac": "D3ZT59",
            "uniprot_id": "D3ZT59_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spr-ps1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZT59-1",
            "evidence": [
                {
                    "id": "0111168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18297-1",
            "uniprot_ac": "P18297",
            "uniprot_id": "SPRE_RAT",
            "refseq_ac": "NP_062054",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                },
                {
                    "name": "SPR",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)",
                    "type": "synonym"
                },
                {
                    "name": "sepiapterin reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spr",
                    "type": "recommended"
                },
                {
                    "name": "Spr",
                    "type": "synonym"
                }
            ],
            "record_id": "P18297-1",
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                {
                    "id": "0111168",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        },
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            "uniprot_canonical_ac": "O76752-1",
            "uniprot_ac": "O76752",
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            "refseq_ac": "NP_727265",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.153",
                    "type": "synonym"
                },
                {
                    "name": "CG12117-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sptr-PA",
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                },
                {
                    "name": "sepiapterin reductase",
                    "type": "synonym"
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            ],
            "gene_names": [
                {
                    "name": "Sptr",
                    "type": "recommended"
                },
                {
                    "name": "CG12117",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12117",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12117",
                    "type": "synonym"
                },
                {
                    "name": "SR",
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                },
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                    "name": "Sptr",
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                    "id": "0111168",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9W3F1-1",
            "uniprot_ac": "Q9W3F1",
            "uniprot_id": "Q9W3F1_DROME",
            "refseq_ac": "NP_572481",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Sepiapterin reductase",
                    "type": "recommended"
                },
                {
                    "name": "CG12116-PA",
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                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "144701_at",
                    "type": "recommended"
                },
                {
                    "name": "144701_at",
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                },
                {
                    "name": "CG12116",
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                {
                    "name": "Dmel\\CG12116",
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                {
                    "name": "Dmel_CG12116",
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            ],
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                    "id": "0111168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111168"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111168"
}