{
    "disease_id": "DOID:0110403",
    "recommended_name": {
        "id": "DOID:0110403",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110403",
        "name": "retinitis pigmentosa 13",
        "description": "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110403",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110403",
            "name": "RP13",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "retinitis pigmentosa 13",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene."
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "PRPF8 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "RP13",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "retinitis pigmentosa 13",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "retinitis pigmentosa caused by mutation in PRPF8",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "retinitis pigmentosa type 13",
            "description": ""
        },
        {
            "id": "MONDO:0010806",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "name": "RP 13",
            "description": ""
        },
        {
            "id": "MIM:600059",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600059",
            "name": "Retinitis pigmentosa 13",
            "description": "Retinitis pigmentosa 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110403"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110403",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110403",
            "categories": []
        },
        {
            "id": "MONDO:0010806",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010806",
            "categories": []
        },
        {
            "id": "MIM:600059",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600059",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B4I2-1",
            "uniprot_ac": "A0A8M2B4I2",
            "uniprot_id": "A0A8M2B4I2_DANRE",
            "refseq_ac": "NP_957270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor Prp8",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing-splicing factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prpf8",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd1257",
                    "type": "synonym"
                },
                {
                    "name": "ik:tdsubc_2a9",
                    "type": "synonym"
                },
                {
                    "name": "im:7141966",
                    "type": "synonym"
                },
                {
                    "name": "prpf8",
                    "type": "synonym"
                },
                {
                    "name": "tdsubc_2a9",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb37c02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb73e06",
                    "type": "synonym"
                },
                {
                    "name": "xx:tdsubc_2a9",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56504",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B4I2-1",
            "evidence": [
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PV0-1",
            "uniprot_ac": "Q99PV0",
            "uniprot_id": "PRP8_MOUSE",
            "refseq_ac": "NP_619600",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "Splicing factor Prp8",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing-splicing factor 8",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor Prp8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf8",
                    "type": "recommended"
                },
                {
                    "name": "D11Bwg0410e",
                    "type": "synonym"
                },
                {
                    "name": "DBF3/PRP8",
                    "type": "synonym"
                },
                {
                    "name": "Prp8",
                    "type": "synonym"
                },
                {
                    "name": "Prpf8",
                    "type": "synonym"
                },
                {
                    "name": "Sfprp8l",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PV0-1",
            "evidence": [
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P2Q9-1",
            "uniprot_ac": "Q6P2Q9",
            "uniprot_id": "PRP8_HUMAN",
            "refseq_ac": "NP_006436",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "220 kDa U5 snRNP-specific protein",
                    "type": "synonym"
                },
                {
                    "name": "PRP8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP8 pre-mRNA processing factor 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor Prp8",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8p",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-regulated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p220",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing-splicing factor 8",
                    "type": "synonym"
                },
                {
                    "name": "precursor mRNA processing protein",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor Prp8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPF8",
                    "type": "recommended"
                },
                {
                    "name": "HPRP8",
                    "type": "synonym"
                },
                {
                    "name": "PRP8",
                    "type": "synonym"
                },
                {
                    "name": "PRPC8",
                    "type": "synonym"
                },
                {
                    "name": "PRPF8",
                    "type": "synonym"
                },
                {
                    "name": "RP13",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP220",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P2Q9-1",
            "evidence": [
                {
                    "id": "600059",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600059"
                },
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33334-1",
            "uniprot_ac": "P33334",
            "uniprot_id": "PRP8_YEAST",
            "refseq_ac": "NP_012035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit PRP8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP8",
                    "type": "recommended"
                },
                {
                    "name": "DBF3",
                    "type": "synonym"
                },
                {
                    "name": "DNA39",
                    "type": "synonym"
                },
                {
                    "name": "PRP8",
                    "type": "synonym"
                },
                {
                    "name": "RNA8",
                    "type": "synonym"
                },
                {
                    "name": "SLT21",
                    "type": "synonym"
                },
                {
                    "name": "USA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P33334-1",
            "evidence": [
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6H2-1",
            "uniprot_ac": "G3V6H2",
            "uniprot_id": "G3V6H2_RAT",
            "refseq_ac": "NP_001178519",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "PRP8 pre-mRNA processing factor 8 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor Prp8",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing-splicing factor 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf8",
                    "type": "recommended"
                },
                {
                    "name": "Prpf8",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V6H2-1",
            "evidence": [
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z8U0-1",
            "uniprot_ac": "A1Z8U0",
            "uniprot_id": "A1Z8U0_DROME",
            "refseq_ac": "NP_610735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing-splicing factor 8",
                    "type": "recommended"
                },
                {
                    "name": "CG8877-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prp8-PA",
                    "type": "synonym"
                },
                {
                    "name": "Splicing factor Prp8",
                    "type": "synonym"
                },
                {
                    "name": "U5 small nuclear ribonucleoprotein-specific factor",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA processing factor 8",
                    "type": "synonym"
                },
                {
                    "name": "prp8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp8",
                    "type": "recommended"
                },
                {
                    "name": "A1Z8U0",
                    "type": "synonym"
                },
                {
                    "name": "CG8877",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8877",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8877",
                    "type": "synonym"
                },
                {
                    "name": "E-2e",
                    "type": "synonym"
                },
                {
                    "name": "Prp8",
                    "type": "synonym"
                },
                {
                    "name": "prp8",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z8U0-1",
            "evidence": [
                {
                    "id": "0110403",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110403"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110403"
}