{
    "disease_id": "DOID:0110402",
    "recommended_name": {
        "id": "DOID:0110402",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110402",
        "name": "retinitis pigmentosa 45",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110402",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110402",
            "name": "RP45",
            "description": ""
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "retinitis pigmentosa 45",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene."
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "CNGB1 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "RP45",
            "description": ""
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "retinitis pigmentosa 45",
            "description": ""
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "retinitis pigmentosa caused by mutation in CNGB1",
            "description": ""
        },
        {
            "id": "MONDO:0013413",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "name": "retinitis pigmentosa type 45",
            "description": ""
        },
        {
            "id": "MIM:613767",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613767",
            "name": "Retinitis pigmentosa 45",
            "description": "Retinitis pigmentosa 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110402"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110402",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110402",
            "categories": []
        },
        {
            "id": "MONDO:0013413",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013413",
            "categories": []
        },
        {
            "id": "MIM:613767",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613767",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AS70-1",
            "uniprot_ac": "A0A8M3AS70",
            "uniprot_id": "A0A8M3AS70_DANRE",
            "refseq_ac": "XP_009292121",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein cngb1a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein cngb1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cngb1a",
                    "type": "recommended"
                },
                {
                    "name": "cngb1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AS70-1",
            "evidence": [
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1AZ71-1",
            "uniprot_ac": "E1AZ71",
            "uniprot_id": "CNGB1_MOUSE",
            "refseq_ac": "NP_001182342",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel 4",
                    "type": "synonym"
                },
                {
                    "name": "CNG-4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel beta-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cngb1",
                    "type": "recommended"
                },
                {
                    "name": "CNG-4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "Cngb1b",
                    "type": "synonym"
                },
                {
                    "name": "Cngb1",
                    "type": "synonym"
                },
                {
                    "name": "Garp2",
                    "type": "synonym"
                },
                {
                    "name": "Gm1959",
                    "type": "synonym"
                }
            ],
            "record_id": "E1AZ71-1",
            "evidence": [
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14028-1",
            "uniprot_ac": "Q14028",
            "uniprot_id": "CNGB1_HUMAN",
            "refseq_ac": "NP_001129111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel 4",
                    "type": "synonym"
                },
                {
                    "name": "CNG channel beta-1",
                    "type": "synonym"
                },
                {
                    "name": "CNG-4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel gamma",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "GARP",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic acid-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel beta-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel gamma",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "glutamic-acid-rich protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNGB1",
                    "type": "recommended"
                },
                {
                    "name": "CNCG2",
                    "type": "synonym"
                },
                {
                    "name": "CNCG3L",
                    "type": "synonym"
                },
                {
                    "name": "CNCG4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "CNGB1B",
                    "type": "synonym"
                },
                {
                    "name": "CNGB1",
                    "type": "synonym"
                },
                {
                    "name": "GAR1",
                    "type": "synonym"
                },
                {
                    "name": "GARP2",
                    "type": "synonym"
                },
                {
                    "name": "GARP",
                    "type": "synonym"
                },
                {
                    "name": "RCNC2",
                    "type": "synonym"
                },
                {
                    "name": "RCNCbeta",
                    "type": "synonym"
                },
                {
                    "name": "RCNCb",
                    "type": "synonym"
                },
                {
                    "name": "RP45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14028-1",
            "evidence": [
                {
                    "id": "613767",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613767"
                },
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZN27-1",
            "uniprot_ac": "A0A8I5ZN27",
            "uniprot_id": "CNGB1_RAT",
            "refseq_ac": "NP_001376189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-1",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel 4",
                    "type": "synonym"
                },
                {
                    "name": "CNG-4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel beta-1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cngb1",
                    "type": "recommended"
                },
                {
                    "name": "CNCG2",
                    "type": "synonym"
                },
                {
                    "name": "CNCG3L",
                    "type": "synonym"
                },
                {
                    "name": "CNCG4",
                    "type": "synonym"
                },
                {
                    "name": "CNG-4",
                    "type": "synonym"
                },
                {
                    "name": "CNG4",
                    "type": "synonym"
                },
                {
                    "name": "Cngb1",
                    "type": "synonym"
                },
                {
                    "name": "Gm1959",
                    "type": "synonym"
                },
                {
                    "name": "RCNC2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZN27-1",
            "evidence": [
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08701-1",
            "uniprot_ac": "O08701",
            "uniprot_id": "ARGI2_RAT",
            "refseq_ac": "NP_062041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginase-2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.5.3.1",
                    "type": "synonym"
                },
                {
                    "name": "AII type II arginase",
                    "type": "synonym"
                },
                {
                    "name": "Arginase II",
                    "type": "synonym"
                },
                {
                    "name": "Kidney-type arginase",
                    "type": "synonym"
                },
                {
                    "name": "Non-hepatic arginase",
                    "type": "synonym"
                },
                {
                    "name": "Type II arginase",
                    "type": "synonym"
                },
                {
                    "name": "arginase II",
                    "type": "synonym"
                },
                {
                    "name": "arginase type II",
                    "type": "synonym"
                },
                {
                    "name": "arginase-2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "arginase-2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "kidney-type arginase",
                    "type": "synonym"
                },
                {
                    "name": "non-hepatic arginase",
                    "type": "synonym"
                },
                {
                    "name": "type II arginase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arg2",
                    "type": "recommended"
                },
                {
                    "name": "Arg2",
                    "type": "synonym"
                }
            ],
            "record_id": "O08701-1",
            "evidence": [
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2D5-1",
            "uniprot_ac": "Q9W2D5",
            "uniprot_id": "Q9W2D5_DROME",
            "refseq_ac": "NP_611607",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17922-PA",
                    "type": "synonym"
                },
                {
                    "name": "CngB-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated ion channel subunit B, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic-nucleotide-gated ion channel protein beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated ion channel subunit B, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CngB",
                    "type": "recommended"
                },
                {
                    "name": "CG17922",
                    "type": "synonym"
                },
                {
                    "name": "Cncbeta",
                    "type": "synonym"
                },
                {
                    "name": "CngB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17922",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17922",
                    "type": "synonym"
                },
                {
                    "name": "dCNCbeta",
                    "type": "synonym"
                },
                {
                    "name": "dmCNGB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2D5-1",
            "evidence": [
                {
                    "id": "0110402",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110402"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110402"
}