{
    "disease_id": "DOID:0110411",
    "recommended_name": {
        "id": "DOID:0110411",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110411",
        "name": "retinitis pigmentosa 60",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0110411",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110411",
            "name": "RP60",
            "description": ""
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "retinitis pigmentosa 60",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene."
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "PRPF6 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "RP60",
            "description": ""
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "retinitis pigmentosa 60",
            "description": ""
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "retinitis pigmentosa caused by mutation in PRPF6",
            "description": ""
        },
        {
            "id": "MONDO:0013516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "name": "retinitis pigmentosa type 60",
            "description": ""
        },
        {
            "id": "MIM:613983",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613983",
            "name": "Retinitis pigmentosa 60",
            "description": "Retinitis pigmentosa 60"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110411"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110411",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110411",
            "categories": []
        },
        {
            "id": "MONDO:0013516",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013516",
            "categories": []
        },
        {
            "id": "MIM:613983",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613983",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8PWG5-1",
            "uniprot_ac": "A0A2R8PWG5",
            "uniprot_id": "A0A2R8PWG5_DANRE",
            "refseq_ac": "NP_997820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pre-mRNA-processing factor 6",
                    "type": "recommended"
                },
                {
                    "name": "PRP6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-associated 102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prpf6",
                    "type": "recommended"
                },
                {
                    "name": "c20orf14",
                    "type": "synonym"
                },
                {
                    "name": "fc12b02",
                    "type": "synonym"
                },
                {
                    "name": "prpf6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa05f07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc12b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65913",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8PWG5-1",
            "evidence": [
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91YR7-1",
            "uniprot_ac": "Q91YR7",
            "uniprot_id": "PRP6_MOUSE",
            "refseq_ac": "NP_598462",
            "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 factor 6",
                    "type": "recommended"
                },
                {
                    "name": "PRP6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 pre-mRNA splicing factor 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-associated 102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5-102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf6",
                    "type": "recommended"
                },
                {
                    "name": "1190003A07Rik",
                    "type": "synonym"
                },
                {
                    "name": "2610031L17Rik",
                    "type": "synonym"
                },
                {
                    "name": "ANT-1",
                    "type": "synonym"
                },
                {
                    "name": "Prpf6",
                    "type": "synonym"
                },
                {
                    "name": "U5-102K",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91YR7-1",
            "evidence": [
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94906-1",
            "uniprot_ac": "O94906",
            "uniprot_id": "PRP6_HUMAN",
            "refseq_ac": "NP_036601",
            "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 factor 6",
                    "type": "recommended"
                },
                {
                    "name": "ANT-1",
                    "type": "synonym"
                },
                {
                    "name": "Androgen receptor N-terminal domain-transactivating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 pre-mRNA processing factor 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-associated 102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5-102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "androgen receptor N-terminal domain transactivating protein-1",
                    "type": "synonym"
                },
                {
                    "name": "p102 U5 small nuclear ribonucleoprotein particle-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing factor 6",
                    "type": "synonym"
                },
                {
                    "name": "putative mitochondrial outer membrane protein import receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPF6",
                    "type": "recommended"
                },
                {
                    "name": "ANT-1",
                    "type": "synonym"
                },
                {
                    "name": "ANT1",
                    "type": "synonym"
                },
                {
                    "name": "C20orf14",
                    "type": "synonym"
                },
                {
                    "name": "PRPF6",
                    "type": "synonym"
                },
                {
                    "name": "Prp6",
                    "type": "synonym"
                },
                {
                    "name": "RP60",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP102",
                    "type": "synonym"
                },
                {
                    "name": "TOM",
                    "type": "synonym"
                },
                {
                    "name": "U5-102K",
                    "type": "synonym"
                },
                {
                    "name": "hPrp6",
                    "type": "synonym"
                }
            ],
            "record_id": "O94906-1",
            "evidence": [
                {
                    "id": "613983",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613983"
                },
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19735-1",
            "uniprot_ac": "P19735",
            "uniprot_id": "PRP6_YEAST",
            "refseq_ac": "NP_009611",
            "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": "Pre-mRNA-splicing factor 6",
                    "type": "recommended"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit PRP6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP6",
                    "type": "recommended"
                },
                {
                    "name": "PRP6",
                    "type": "synonym"
                },
                {
                    "name": "RNA6",
                    "type": "synonym"
                },
                {
                    "name": "TSM7269",
                    "type": "synonym"
                },
                {
                    "name": "YBR0508",
                    "type": "synonym"
                }
            ],
            "record_id": "P19735-1",
            "evidence": [
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1A5S1-1",
            "uniprot_ac": "A1A5S1",
            "uniprot_id": "PRP6_RAT",
            "refseq_ac": "NP_001073234",
            "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 factor 6",
                    "type": "recommended"
                },
                {
                    "name": "PRP6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 pre-mRNA processing factor 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 pre-mRNA splicing factor 6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-associated 102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5-102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Linc00176",
                    "type": "recommended"
                },
                {
                    "name": "Prpf6",
                    "type": "recommended"
                },
                {
                    "name": "Linc00176",
                    "type": "synonym"
                },
                {
                    "name": "Prpf6",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307103",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561282",
                    "type": "synonym"
                }
            ],
            "record_id": "A1A5S1-1",
            "evidence": [
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVU6-1",
            "uniprot_ac": "Q9VVU6",
            "uniprot_id": "Q9VVU6_DROME",
            "refseq_ac": "NP_001303371",
            "glycoprotein": "yes",
            "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 factor 6",
                    "type": "recommended"
                },
                {
                    "name": "CG6841-PB",
                    "type": "synonym"
                },
                {
                    "name": "PRP6 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Prp6-PB",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-associated 102 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA processing factor 6, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp6",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD43276",
                    "type": "synonym"
                },
                {
                    "name": "CG6841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6841",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6841",
                    "type": "synonym"
                },
                {
                    "name": "Prp6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVU6-1",
            "evidence": [
                {
                    "id": "0110411",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110411"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110411"
}