{
    "disease_id": "DOID:0110366",
    "recommended_name": {
        "id": "DOID:0110366",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110366",
        "name": "retinitis pigmentosa 33",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110366",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110366",
            "name": "RP33",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "retinitis pigmentosa 33",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene."
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "RP33",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "SNRNP200 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "retinitis pigmentosa 33",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "retinitis pigmentosa caused by mutation in SNRNP200",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "retinitis pigmentosa type 33",
            "description": ""
        },
        {
            "id": "MONDO:0012477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "name": "RP 33",
            "description": ""
        },
        {
            "id": "MIM:610359",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610359",
            "name": "Retinitis pigmentosa 33",
            "description": "Retinitis pigmentosa 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110366"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110366",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110366",
            "categories": []
        },
        {
            "id": "MONDO:0012477",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012477",
            "categories": []
        },
        {
            "id": "MIM:610359",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610359",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S754-1",
            "uniprot_ac": "B0S754",
            "uniprot_id": "B0S754_DANRE",
            "refseq_ac": "NP_001116729",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "BRR2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific 200 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "activating signal cointegrator 1 complex subunit 3-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "snrnp200",
                    "type": "recommended"
                },
                {
                    "name": "fb63a09",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-251j10.5",
                    "type": "synonym"
                },
                {
                    "name": "snrnp200",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb63a09",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S754-1",
            "evidence": [
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P4T2-1",
            "uniprot_ac": "Q6P4T2",
            "uniprot_id": "U520_MOUSE",
            "refseq_ac": "NP_796188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "BRR2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific 200 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific protein, 200 kDa (DEXH RNA helicase family)",
                    "type": "synonym"
                },
                {
                    "name": "U5-200KD",
                    "type": "synonym"
                },
                {
                    "name": "activating signal cointegrator 1 complex subunit 3-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snrnp200",
                    "type": "recommended"
                },
                {
                    "name": "A330064G03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ascc3l1",
                    "type": "synonym"
                },
                {
                    "name": "HELIC2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0788",
                    "type": "synonym"
                },
                {
                    "name": "Snrnp200",
                    "type": "synonym"
                },
                {
                    "name": "U5-200-KD",
                    "type": "synonym"
                },
                {
                    "name": "U5-200KD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P4T2-1",
            "evidence": [
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75643-1",
            "uniprot_ac": "O75643",
            "uniprot_id": "U520_HUMAN",
            "refseq_ac": "NP_054733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "Activating signal cointegrator 1 complex subunit 3-like 1",
                    "type": "synonym"
                },
                {
                    "name": "BRR2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific 200 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5-200KD",
                    "type": "synonym"
                },
                {
                    "name": "activating signal cointegrator 1 complex subunit 3-like 1",
                    "type": "synonym"
                },
                {
                    "name": "bad response to refrigeration 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein 200kDa (U5)",
                    "type": "synonym"
                },
                {
                    "name": "small nuclear ribonucleoprotein, U5 200kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNRNP200",
                    "type": "recommended"
                },
                {
                    "name": "ASCC3L1",
                    "type": "synonym"
                },
                {
                    "name": "BRR2",
                    "type": "synonym"
                },
                {
                    "name": "HELIC2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0788",
                    "type": "synonym"
                },
                {
                    "name": "RP33",
                    "type": "synonym"
                },
                {
                    "name": "SNRNP200",
                    "type": "synonym"
                },
                {
                    "name": "U5-200KD",
                    "type": "synonym"
                }
            ],
            "record_id": "O75643-1",
            "evidence": [
                {
                    "id": "610359",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610359"
                },
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32639-1",
            "uniprot_ac": "P32639",
            "uniprot_id": "BRR2_YEAST",
            "refseq_ac": "NP_011099",
            "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 helicase BRR2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase BRR2",
                    "type": "synonym"
                },
                {
                    "name": "Protein Snu246",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BRR2",
                    "type": "recommended"
                },
                {
                    "name": "BRR2",
                    "type": "synonym"
                },
                {
                    "name": "PRP44",
                    "type": "synonym"
                },
                {
                    "name": "RSS1",
                    "type": "synonym"
                },
                {
                    "name": "SLT22",
                    "type": "synonym"
                },
                {
                    "name": "SNU246",
                    "type": "synonym"
                },
                {
                    "name": "SYGP-ORF66",
                    "type": "synonym"
                }
            ],
            "record_id": "P32639-1",
            "evidence": [
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LNJ2-1",
            "uniprot_ac": "F1LNJ2",
            "uniprot_id": "U520_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "BRR2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "U5 snRNP-specific 200 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "U5-200KD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snrnp200",
                    "type": "recommended"
                }
            ],
            "record_id": "F1LNJ2-1",
            "evidence": [
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUV9-1",
            "uniprot_ac": "Q9VUV9",
            "uniprot_id": "U520_DROME",
            "refseq_ac": "NP_648818",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "U5 small nuclear ribonucleoprotein 200 kDa helicase",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "Brr2 U5 snRNP complex subunit",
                    "type": "synonym"
                },
                {
                    "name": "Brr2-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG5931-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein lethal (3) 72Ab",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72Ab",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Brr2",
                    "type": "recommended"
                },
                {
                    "name": "ASCC3L1",
                    "type": "synonym"
                },
                {
                    "name": "Brr2",
                    "type": "synonym"
                },
                {
                    "name": "CG5931",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5931",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.21",
                    "type": "synonym"
                },
                {
                    "name": "brr2",
                    "type": "synonym"
                },
                {
                    "name": "cg5931",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.21",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Ab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUV9-1",
            "evidence": [
                {
                    "id": "0110366",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110366"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110366"
}