{
    "disease_id": "DOID:0110392",
    "recommended_name": {
        "id": "DOID:0110392",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110392",
        "name": "retinitis pigmentosa 70",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110392",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110392",
            "name": "RP70",
            "description": ""
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "retinitis pigmentosa 70",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene."
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "PRPF4 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "RP70",
            "description": ""
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "retinitis pigmentosa 70",
            "description": ""
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "retinitis pigmentosa caused by mutation in PRPF4",
            "description": ""
        },
        {
            "id": "MONDO:0014400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "name": "retinitis pigmentosa type 70",
            "description": ""
        },
        {
            "id": "MIM:615922",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615922",
            "name": "Retinitis pigmentosa 70",
            "description": "Retinitis pigmentosa 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110392"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110392",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110392",
            "categories": []
        },
        {
            "id": "MONDO:0014400",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014400",
            "categories": []
        },
        {
            "id": "MIM:615922",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615922",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9DAW6-1",
            "uniprot_ac": "Q9DAW6",
            "uniprot_id": "PRP4_MOUSE",
            "refseq_ac": "NP_081573",
            "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 Prp4",
                    "type": "recommended"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp4",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 60 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "WD splicing factor Prp4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf4",
                    "type": "recommended"
                },
                {
                    "name": "1600015H11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Prpf4",
                    "type": "synonym"
                },
                {
                    "name": "bN189G18.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAW6-1",
            "evidence": [
                {
                    "id": "0110392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43172-1",
            "uniprot_ac": "O43172",
            "uniprot_id": "PRP4_HUMAN",
            "refseq_ac": "NP_001231855",
            "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 Prp4",
                    "type": "recommended"
                },
                {
                    "name": "PRP4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP4 pre-mRNA processing factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PRP4/STK/WD splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp4",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 60 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "WD splicing factor Prp4",
                    "type": "synonym"
                },
                {
                    "name": "hPrp4",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA processing factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPF4",
                    "type": "recommended"
                },
                {
                    "name": "HPRP4P",
                    "type": "synonym"
                },
                {
                    "name": "HPRP4",
                    "type": "synonym"
                },
                {
                    "name": "PRP4",
                    "type": "synonym"
                },
                {
                    "name": "PRPF4",
                    "type": "synonym"
                },
                {
                    "name": "Prp4p",
                    "type": "synonym"
                },
                {
                    "name": "RP70",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP60",
                    "type": "synonym"
                }
            ],
            "record_id": "O43172-1",
            "evidence": [
                {
                    "id": "615922",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615922"
                },
                {
                    "id": "0110392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20053-1",
            "uniprot_ac": "P20053",
            "uniprot_id": "PRP4_YEAST",
            "refseq_ac": "NP_015504",
            "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": "U4/U6 small nuclear ribonucleoprotein PRP4",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-processing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit PRP4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP4",
                    "type": "recommended"
                },
                {
                    "name": "P9705.6",
                    "type": "synonym"
                },
                {
                    "name": "PRP4",
                    "type": "synonym"
                },
                {
                    "name": "RNA4",
                    "type": "synonym"
                }
            ],
            "record_id": "P20053-1",
            "evidence": [
                {
                    "id": "0110392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7J8-1",
            "uniprot_ac": "D4A7J8",
            "uniprot_id": "D4A7J8_RAT",
            "refseq_ac": "NP_001100129",
            "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 Prp4",
                    "type": "recommended"
                },
                {
                    "name": "PRP4 pre-mRNA processing factor 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp4",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 60 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "WD splicing factor Prp4",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA splicing tri-snRNP complex factor 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf4",
                    "type": "recommended"
                },
                {
                    "name": "Prpf4",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7J8-1",
            "evidence": [
                {
                    "id": "0110392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110392"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVI0-1",
            "uniprot_ac": "Q9VVI0",
            "uniprot_id": "Q9VVI0_DROME",
            "refseq_ac": "NP_648990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG6322-PA",
                    "type": "synonym"
                },
                {
                    "name": "U4-U6 small nuclear riboprotein factor 60K",
                    "type": "synonym"
                },
                {
                    "name": "U4-U6-60K-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "U4-U6-60K",
                    "type": "recommended"
                },
                {
                    "name": "CG6322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6322",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6322",
                    "type": "synonym"
                },
                {
                    "name": "Prp4",
                    "type": "synonym"
                },
                {
                    "name": "U4-U6-60K",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6-60K",
                    "type": "synonym"
                },
                {
                    "name": "U6-60K",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVI0-1",
            "evidence": [
                {
                    "id": "0110392",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110392"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110392"
}