{
    "disease_id": "DOID:0110399",
    "recommended_name": {
        "id": "DOID:0110399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110399",
        "name": "retinitis pigmentosa 37",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110399",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110399",
            "name": "RP37",
            "description": ""
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "retinitis pigmentosa 37",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene."
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "NR2E3 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "RP37",
            "description": ""
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "retinitis pigmentosa 37",
            "description": ""
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "retinitis pigmentosa caused by mutation in NR2E3",
            "description": ""
        },
        {
            "id": "MONDO:0012625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "name": "retinitis pigmentosa type 37",
            "description": ""
        },
        {
            "id": "MIM:611131",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611131",
            "name": "Retinitis pigmentosa 37",
            "description": "Retinitis pigmentosa 37"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110399",
            "categories": []
        },
        {
            "id": "MONDO:0012625",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012625",
            "categories": []
        },
        {
            "id": "MIM:611131",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611131",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N3E8-1",
            "uniprot_ac": "A0A8M1N3E8",
            "uniprot_id": "A0A8M1N3E8_DANRE",
            "refseq_ac": "NP_001007369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Photoreceptor-specific nuclear receptor",
                    "type": "recommended"
                },
                {
                    "name": "NR2D2",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "nr2e3",
                    "type": "recommended"
                },
                {
                    "name": "fj55b07",
                    "type": "synonym"
                },
                {
                    "name": "nr2e3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj55b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103631",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N3E8-1",
            "evidence": [
                {
                    "id": "0110399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXZ7-1",
            "uniprot_ac": "Q9QXZ7",
            "uniprot_id": "NR2E3_MOUSE",
            "refseq_ac": "NP_038736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "retina-specific nuclear receptor",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr2e3",
                    "type": "recommended"
                },
                {
                    "name": "A930035N01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nr2e3",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "Pnr",
                    "type": "synonym"
                },
                {
                    "name": "RNR",
                    "type": "synonym"
                },
                {
                    "name": "Rnr",
                    "type": "synonym"
                },
                {
                    "name": "rd7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXZ7-1",
            "evidence": [
                {
                    "id": "0110399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5X4-1",
            "uniprot_ac": "Q9Y5X4",
            "uniprot_id": "NR2E3_HUMAN",
            "refseq_ac": "NP_055064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "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"
                }
            ],
            "record_id": "Q9Y5X4-1",
            "evidence": [
                {
                    "id": "611131",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611131"
                },
                {
                    "id": "0110399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R4U8-1",
            "uniprot_ac": "M0R4U8",
            "uniprot_id": "M0R4U8_RAT",
            "refseq_ac": "NP_001414589",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "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",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nr2e3",
                    "type": "recommended"
                },
                {
                    "name": "LOC100365683",
                    "type": "synonym"
                },
                {
                    "name": "Nr2e3",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R4U8-1",
            "evidence": [
                {
                    "id": "0110399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA01-1",
            "uniprot_ac": "A1ZA01",
            "uniprot_id": "A1ZA01_DROME",
            "refseq_ac": "NP_611032",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG16801-PC",
                    "type": "synonym"
                },
                {
                    "name": "Hormone receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "Hr51-PC",
                    "type": "synonym"
                },
                {
                    "name": "drosophila hormone receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "failure to deploy or expand",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor 51",
                    "type": "synonym"
                },
                {
                    "name": "hormone receptor at 51",
                    "type": "synonym"
                },
                {
                    "name": "unfulfilled",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hr51",
                    "type": "recommended"
                },
                {
                    "name": "CG16801/NR2E3",
                    "type": "synonym"
                },
                {
                    "name": "CG16801",
                    "type": "synonym"
                },
                {
                    "name": "DHR51",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16801",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16801",
                    "type": "synonym"
                },
                {
                    "name": "HR51",
                    "type": "synonym"
                },
                {
                    "name": "Hr51",
                    "type": "synonym"
                },
                {
                    "name": "NR2E3",
                    "type": "synonym"
                },
                {
                    "name": "Nr2e3",
                    "type": "synonym"
                },
                {
                    "name": "PNR",
                    "type": "synonym"
                },
                {
                    "name": "UNF",
                    "type": "synonym"
                },
                {
                    "name": "fdx",
                    "type": "synonym"
                },
                {
                    "name": "unf",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZA01-1",
            "evidence": [
                {
                    "id": "0110399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110399"
}