{
    "disease_id": "DOID:0110391",
    "recommended_name": {
        "id": "DOID:0110391",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110391",
        "name": "retinitis pigmentosa 31",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110391",
            "name": "RP31",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "retinitis pigmentosa 31",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene."
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "RP31",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "TOPORS retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "retinitis pigmentosa 31",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "retinitis pigmentosa caused by mutation in TOPORS",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "retinitis pigmentosa type 31",
            "description": ""
        },
        {
            "id": "MONDO:0012367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "name": "RP 31",
            "description": ""
        },
        {
            "id": "MIM:609923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609923",
            "name": "Retinitis pigmentosa 31",
            "description": "Retinitis pigmentosa 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110391"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110391",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110391",
            "categories": []
        },
        {
            "id": "MONDO:0012367",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012367",
            "categories": []
        },
        {
            "id": "MIM:609923",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609923",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ICA2-1",
            "uniprot_ac": "A0A0R4ICA2",
            "uniprot_id": "A0A0R4ICA2_DANRE",
            "refseq_ac": "XP_003201680",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein toporsb isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toporsb",
                    "type": "recommended"
                },
                {
                    "name": "toporsb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ICA2-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1P6B6-1",
            "uniprot_ac": "A0A8M1P6B6",
            "uniprot_id": "A0A8M1P6B6_DANRE",
            "refseq_ac": "NP_001292484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I binding, arginine/serine-rich a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toporsa",
                    "type": "recommended"
                },
                {
                    "name": "si:ch211-145b13.4",
                    "type": "synonym"
                },
                {
                    "name": "toporsa",
                    "type": "synonym"
                },
                {
                    "name": "topors",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc21e07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1P6B6-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Z37-1",
            "uniprot_ac": "Q80Z37",
            "uniprot_id": "TOPRS_MOUSE",
            "refseq_ac": "NP_598858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Topors isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "p53BP3",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase 1-binding RING finger",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Topors",
                    "type": "recommended"
                },
                {
                    "name": "LUN",
                    "type": "synonym"
                },
                {
                    "name": "TP53BPL",
                    "type": "synonym"
                },
                {
                    "name": "Topors",
                    "type": "synonym"
                },
                {
                    "name": "p53BP3/LUN",
                    "type": "synonym"
                },
                {
                    "name": "p53BP3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Z37-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NS56-1",
            "uniprot_ac": "Q9NS56",
            "uniprot_id": "TOPRS_HUMAN",
            "refseq_ac": "NP_001182551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase Topors isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "p53-binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "p53BP3",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TOPORS",
                    "type": "recommended"
                },
                {
                    "name": "LUN",
                    "type": "synonym"
                },
                {
                    "name": "P53BP3",
                    "type": "synonym"
                },
                {
                    "name": "RP31",
                    "type": "synonym"
                },
                {
                    "name": "TOPORS",
                    "type": "synonym"
                },
                {
                    "name": "TP53BPL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NS56-1",
            "evidence": [
                {
                    "id": "609923",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609923"
                },
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZE0-1",
            "uniprot_ac": "D3ZZE0",
            "uniprot_id": "D3ZZE0_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": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor suppressor p53-binding protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Topors",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZZE0-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4JD40-1",
            "uniprot_ac": "A0A0B4JD40",
            "uniprot_id": "TOPRL_DROME",
            "refseq_ac": "NP_001188974",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Topors-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG18605-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18605",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18605",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4JD40-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V8P9-1",
            "uniprot_ac": "Q9V8P9",
            "uniprot_id": "TOPRS_DROME",
            "refseq_ac": "NP_001261083",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase Topors",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG15104-PB",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase Topors",
                    "type": "synonym"
                },
                {
                    "name": "SUMO1-protein E3 ligase Topors",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding RING finger protein",
                    "type": "synonym"
                },
                {
                    "name": "Topoisomerase I-binding arginine/serine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Topors-PB",
                    "type": "synonym"
                },
                {
                    "name": "dTopors",
                    "type": "synonym"
                },
                {
                    "name": "nuclear blebber",
                    "type": "synonym"
                },
                {
                    "name": "topoisomerase I-interacting protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Topors",
                    "type": "recommended"
                },
                {
                    "name": "CG15104",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15104",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15104",
                    "type": "synonym"
                },
                {
                    "name": "TOPORS",
                    "type": "synonym"
                },
                {
                    "name": "Topors",
                    "type": "synonym"
                },
                {
                    "name": "dTopors",
                    "type": "synonym"
                },
                {
                    "name": "dtopors",
                    "type": "synonym"
                },
                {
                    "name": "nbl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V8P9-1",
            "evidence": [
                {
                    "id": "0110391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110391"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110391"
}