{
    "disease_id": "DOID:0110356",
    "recommended_name": {
        "id": "DOID:0110356",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110356",
        "name": "retinitis pigmentosa 18",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110356",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110356",
            "name": "RP18",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "retinitis pigmentosa 18",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene."
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "PRPF3 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "RP18",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "retinitis pigmentosa 18",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "retinitis pigmentosa caused by mutation in PRPF3",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "retinitis pigmentosa type 18",
            "description": ""
        },
        {
            "id": "MONDO:0011075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "name": "RP 18",
            "description": ""
        },
        {
            "id": "MIM:601414",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601414",
            "name": "Retinitis pigmentosa 18",
            "description": "Retinitis pigmentosa 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110356"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110356",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110356",
            "categories": []
        },
        {
            "id": "MONDO:0011075",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011075",
            "categories": []
        },
        {
            "id": "MIM:601414",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601414",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q922U1-1",
            "uniprot_ac": "Q922U1",
            "uniprot_id": "PRPF3_MOUSE",
            "refseq_ac": "NP_001303680",
            "glycoprotein": "no",
            "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 Prp3",
                    "type": "recommended"
                },
                {
                    "name": "PRP3 pre-mRNA processing factor 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-splicing factor 3",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp3",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf3",
                    "type": "recommended"
                },
                {
                    "name": "3632413F13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Prpf3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922U1-1",
            "evidence": [
                {
                    "id": "0110356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43395-1",
            "uniprot_ac": "O43395",
            "uniprot_id": "PRPF3_HUMAN",
            "refseq_ac": "NP_004689",
            "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 Prp3",
                    "type": "recommended"
                },
                {
                    "name": "PRP3 pre-mRNA processing factor 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-splicing factor 3",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp3",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 snRNP 90 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6-associated RNA splicing factor",
                    "type": "synonym"
                },
                {
                    "name": "hPrp3",
                    "type": "synonym"
                },
                {
                    "name": "pre-mRNA-splicing factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPF3",
                    "type": "recommended"
                },
                {
                    "name": "HPRP3P",
                    "type": "synonym"
                },
                {
                    "name": "HPRP3",
                    "type": "synonym"
                },
                {
                    "name": "PRP3",
                    "type": "synonym"
                },
                {
                    "name": "PRPF3",
                    "type": "synonym"
                },
                {
                    "name": "Prp3p",
                    "type": "synonym"
                },
                {
                    "name": "RP18",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP90",
                    "type": "synonym"
                }
            ],
            "record_id": "O43395-1",
            "evidence": [
                {
                    "id": "601414",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601414"
                },
                {
                    "id": "0110356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03338-1",
            "uniprot_ac": "Q03338",
            "uniprot_id": "PRP3_YEAST",
            "refseq_ac": "NP_010761",
            "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 PRP3",
                    "type": "recommended"
                },
                {
                    "name": "Pre-mRNA-splicing factor 3",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6-U5 snRNP complex subunit PRP3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRP3",
                    "type": "recommended"
                },
                {
                    "name": "D8035.16",
                    "type": "synonym"
                },
                {
                    "name": "PRP3",
                    "type": "synonym"
                },
                {
                    "name": "RNA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03338-1",
            "evidence": [
                {
                    "id": "0110356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GK69-1",
            "uniprot_ac": "A0A8I6GK69",
            "uniprot_id": "A0A8I6GK69_RAT",
            "refseq_ac": "NP_001424817",
            "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 Prp3",
                    "type": "recommended"
                },
                {
                    "name": "PRP3 pre-mRNA processing factor 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Pre-mRNA-splicing factor 3",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "U4/U6 small nuclear ribonucleoprotein Prp3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prpf3",
                    "type": "recommended"
                },
                {
                    "name": "Prpf3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GK69-1",
            "evidence": [
                {
                    "id": "0110356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110356"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW52-1",
            "uniprot_ac": "Q9VW52",
            "uniprot_id": "Q9VW52_DROME",
            "refseq_ac": "NP_649156",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7757-PA",
                    "type": "synonym"
                },
                {
                    "name": "Precursor RNA processing 3, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Prp3-PA",
                    "type": "synonym"
                },
                {
                    "name": "precursor RNA processing 3, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prp3",
                    "type": "recommended"
                },
                {
                    "name": "CG7757",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7757",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7757",
                    "type": "synonym"
                },
                {
                    "name": "PRPF3",
                    "type": "synonym"
                },
                {
                    "name": "Prp3",
                    "type": "synonym"
                },
                {
                    "name": "dPrp3",
                    "type": "synonym"
                },
                {
                    "name": "prp3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW52-1",
            "evidence": [
                {
                    "id": "0110356",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110356"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110356"
}