{
    "disease_id": "DOID:0090059",
    "recommended_name": {
        "id": "DOID:0090059",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090059",
        "name": "enhanced S-cone syndrome",
        "description": "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration."
    },
    "synonyms": [
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "Goldmann-Favre syndrome",
            "description": "A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis)."
        },
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "enhanced S-cone syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "name": "retinoschisis with early nyctalopia",
            "description": ""
        },
        {
            "id": "MIM:268100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/268100",
            "name": "Enhanced S cone syndrome",
            "description": "Enhanced S cone syndrome"
        }
    ],
    "children": [
        {
            "id": "DOID:0061231",
            "label": "enhanced S-cone syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061232",
            "label": "enhanced S-cone syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090059",
        "DOID:0061232",
        "DOID:0061231"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090059",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090059",
            "categories": []
        },
        {
            "id": "MONDO:0100289",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100289",
            "categories": []
        },
        {
            "id": "MIM:268100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/268100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N3E8-1",
            "uniprot_ac": "A0A8M1N3E8",
            "uniprot_id": "A0A8M1N3E8_DANRE",
            "refseq_ac": "NP_001007369",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "NR2D2",
                    "type": "synonym"
                },
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                    "name": "Nuclear receptor subfamily 2 group E member 3",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "Retina-specific nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor-specific nuclear receptor",
                    "type": "synonym"
                }
            ],
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                    "name": "nr2e3",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
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                    "name": "nr2e3",
                    "type": "synonym"
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                    "name": "wu:fj55b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103631",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N3E8-1",
            "evidence": [
                {
                    "id": "0090059",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090059"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9QXZ7-1",
            "uniprot_ac": "Q9QXZ7",
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                {
                    "name": "Mus musculus",
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                }
            ],
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                {
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                },
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                    "name": "retina-specific nuclear receptor",
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                    "name": "retinal degeneration 7",
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            ],
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                    "name": "Nr2e3",
                    "type": "recommended"
                },
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                },
                {
                    "name": "Nr2e3",
                    "type": "synonym"
                },
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                },
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                },
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                    "type": "synonym"
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            ],
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            ]
        },
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                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
                    "name": "neural retina-specific leucine zipper protein",
                    "type": "synonym"
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                    "name": "Nrl",
                    "type": "recommended"
                },
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                    "name": "D14H14S46E",
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                    "id": "0090059",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090059"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5X4-1",
            "uniprot_ac": "Q9Y5X4",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Photoreceptor-specific nuclear receptor",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor subfamily 2 group E member 3",
                    "type": "synonym"
                },
                {
                    "name": "Retina-specific nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor-specific nuclear receptor isoform b",
                    "type": "synonym"
                },
                {
                    "name": "photoreceptor-specific nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "retina-specific nuclear receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NR2E3",
                    "type": "recommended"
                },
                {
                    "name": "ESCS1",
                    "type": "synonym"
                },
                {
                    "name": "ESCS",
                    "type": "synonym"
                },
                {
                    "name": "NR2E3",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "RNR",
                    "type": "synonym"
                },
                {
                    "name": "RP37",
                    "type": "synonym"
                },
                {
                    "name": "rd7",
                    "type": "synonym"
                }
            ],
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                    "id": "0090059",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0090059"
                }
            ]
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            "uniprot_ac": "M0R4U8",
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                    "name": "Rattus norvegicus",
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                    "name": "Photoreceptor-specific nuclear receptor",
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                },
                {
                    "name": "Nuclear receptor subfamily 2 group E member 3",
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                    "type": "synonym"
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                    "name": "drosophila hormone receptor 51",
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                    "name": "Drosophila melanogaster",
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                    "name": "Traffic jam, isoform C",
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                    "name": "Dmaf",
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                    "name": "Dmel_CG10034",
                    "type": "synonym"
                },
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                    "name": "PL3",
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                    "name": "TJ",
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                    "name": "fs(2)eoPL3",
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                    "name": "maf1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neural retina-specific leucine zipper protein",
                    "type": "recommended"
                },
                {
                    "name": "Maf-family bZIP transcription factor NRL",
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                },
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                    "name": "NRL",
                    "type": "synonym"
                },
                {
                    "name": "neural retina-specific leucine zipper protein isoform 1",
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                    "name": "neural retinal-specific leucine zipper",
                    "type": "synonym"
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                    "name": "NRL",
                    "type": "recommended"
                },
                {
                    "name": "D14S46E",
                    "type": "synonym"
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                {
                    "name": "ESCS2",
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                    "name": "NRL-MAF",
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                    "name": "RP27",
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                    "id": "0090059",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090059"
}