{
    "disease_id": "DOID:0110408",
    "recommended_name": {
        "id": "DOID:0110408",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110408",
        "name": "retinitis pigmentosa 11",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110408",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110408",
            "name": "RP11",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "retinitis pigmentosa 11",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene."
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "PRPF31 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "RP11",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "retinitis pigmentosa 11",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "retinitis pigmentosa caused by mutation in PRPF31",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "retinitis pigmentosa type 11",
            "description": ""
        },
        {
            "id": "MONDO:0010828",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "name": "RP 11",
            "description": ""
        },
        {
            "id": "MIM:600138",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600138",
            "name": "Retinitis pigmentosa 11",
            "description": "Retinitis pigmentosa 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110408"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110408",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110408",
            "categories": []
        },
        {
            "id": "MONDO:0010828",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010828",
            "categories": []
        },
        {
            "id": "MIM:600138",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600138",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SXM7-1",
            "uniprot_ac": "Q7SXM7",
            "uniprot_id": "PRP31_DANRE",
            "refseq_ac": "NP_956798",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-processing factor 31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prpf31",
                    "type": "recommended"
                },
                {
                    "name": "prpf31",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66177",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXM7-1",
            "evidence": [
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CCF0-1",
            "uniprot_ac": "Q8CCF0",
            "uniprot_id": "PRP31_MOUSE",
            "refseq_ac": "NP_001153186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "recommended"
                },
                {
                    "name": "PRP31 pre-mRNA processing factor 31 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "Protein 61K",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 61 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "protein 61K",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf31",
                    "type": "recommended"
                },
                {
                    "name": "1500019O16Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810404O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "PRP31",
                    "type": "synonym"
                },
                {
                    "name": "Prp31",
                    "type": "synonym"
                },
                {
                    "name": "Prpf31",
                    "type": "synonym"
                },
                {
                    "name": "RP11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CCF0-1",
            "evidence": [
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WWY3-1",
            "uniprot_ac": "Q8WWY3",
            "uniprot_id": "PRP31_HUMAN",
            "refseq_ac": "NP_056444",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "recommended"
                },
                {
                    "name": "PRP31 pre-mRNA processing factor 31 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "Protein 61K",
                    "type": "synonym"
                },
                {
                    "name": "Serologically defined breast cancer antigen NY-BR-99",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 61 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "hPrp31",
                    "type": "synonym"
                },
                {
                    "name": "protein 61K",
                    "type": "synonym"
                },
                {
                    "name": "serologically defined breast cancer antigen NY-BR-99",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPF31",
                    "type": "recommended"
                },
                {
                    "name": "NY-BR-99",
                    "type": "synonym"
                },
                {
                    "name": "PRP31",
                    "type": "synonym"
                },
                {
                    "name": "PRPF31",
                    "type": "synonym"
                },
                {
                    "name": "RP11",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP61",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WWY3-1",
            "evidence": [
                {
                    "id": "600138",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600138"
                },
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49704-1",
            "uniprot_ac": "P49704",
            "uniprot_id": "PRP31_YEAST",
            "refseq_ac": "NP_011605",
            "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-processing factor 31",
                    "type": "recommended"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit PRP31",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP31",
                    "type": "recommended"
                },
                {
                    "name": "PRP31",
                    "type": "synonym"
                }
            ],
            "record_id": "P49704-1",
            "evidence": [
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZI68-1",
            "uniprot_ac": "D3ZI68",
            "uniprot_id": "D3ZI68_RAT",
            "refseq_ac": "NP_001099689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "recommended"
                },
                {
                    "name": "PRP31 pre-mRNA processing factor 31 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 61 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf31",
                    "type": "recommended"
                },
                {
                    "name": "Prpf31",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZI68-1",
            "evidence": [
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUM1-1",
            "uniprot_ac": "Q9VUM1",
            "uniprot_id": "Q9VUM1_DROME",
            "refseq_ac": "NP_648756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp31",
                    "type": "recommended"
                },
                {
                    "name": "CG6876-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-processing factor 31",
                    "type": "synonym"
                },
                {
                    "name": "Prp31-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp31",
                    "type": "recommended"
                },
                {
                    "name": "CG6876",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6876",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6876",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0036487",
                    "type": "synonym"
                },
                {
                    "name": "Prp31",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-2.38",
                    "type": "synonym"
                },
                {
                    "name": "clone 2.38",
                    "type": "synonym"
                },
                {
                    "name": "prp31",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUM1-1",
            "evidence": [
                {
                    "id": "0110408",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110408"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110408"
}