{
    "disease_id": "DOID:0110375",
    "recommended_name": {
        "id": "DOID:0110375",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110375",
        "name": "retinitis pigmentosa 40",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0110375",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110375",
            "name": "RP40",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "retinitis pigmentosa 40",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene."
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "PDE6B retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "RP40",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "retinitis pigmentosa 40",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "retinitis pigmentosa caused by mutation in PDE6B",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "retinitis pigmentosa type 40",
            "description": ""
        },
        {
            "id": "MONDO:0013429",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "name": "retinitis pigmentosa-40",
            "description": ""
        },
        {
            "id": "MIM:613801",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613801",
            "name": "Retinitis pigmentosa 40",
            "description": "Retinitis pigmentosa 40"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110375"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110375",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110375",
            "categories": []
        },
        {
            "id": "MONDO:0013429",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013429",
            "categories": []
        },
        {
            "id": "MIM:613801",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613801",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IAR7-1",
            "uniprot_ac": "A0AC58IAR7",
            "uniprot_id": "A0AC58IAR7_DANRE",
            "refseq_ac": "XP_073791330",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde6b",
                    "type": "recommended"
                },
                {
                    "name": "pde6b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IAR7-1",
            "evidence": [
                {
                    "id": "0110375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23440-1",
            "uniprot_ac": "P23440",
            "uniprot_id": "PDE6B_MOUSE",
            "refseq_ac": "NP_032832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDE beta",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-phosphodiesterase beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase, cGMP, rod receptor, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 1",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6b",
                    "type": "recommended"
                },
                {
                    "name": "Mpb",
                    "type": "synonym"
                },
                {
                    "name": "Pde6b",
                    "type": "synonym"
                },
                {
                    "name": "Pdeb",
                    "type": "synonym"
                },
                {
                    "name": "rd-1",
                    "type": "synonym"
                },
                {
                    "name": "rd10",
                    "type": "synonym"
                },
                {
                    "name": "rd1",
                    "type": "synonym"
                },
                {
                    "name": "rd",
                    "type": "synonym"
                },
                {
                    "name": "r",
                    "type": "synonym"
                }
            ],
            "record_id": "P23440-1",
            "evidence": [
                {
                    "id": "0110375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35913-1",
            "uniprot_ac": "P35913",
            "uniprot_id": "PDE6B_HUMAN",
            "refseq_ac": "NP_000274",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDE beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6B, cGMP-specific, rod, beta",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-phosphodiesterase beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE6B",
                    "type": "recommended"
                },
                {
                    "name": "CSNB3",
                    "type": "synonym"
                },
                {
                    "name": "CSNBAD2",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDEbeta",
                    "type": "synonym"
                },
                {
                    "name": "PDE6B",
                    "type": "synonym"
                },
                {
                    "name": "PDEB",
                    "type": "synonym"
                },
                {
                    "name": "RP40",
                    "type": "synonym"
                },
                {
                    "name": "rd1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35913-1",
            "evidence": [
                {
                    "id": "613801",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613801"
                },
                {
                    "id": "0110375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDI8-1",
            "uniprot_ac": "D3ZDI8",
            "uniprot_id": "PDE6B_RAT",
            "refseq_ac": "NP_001099494",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6B, cGMP-specific, rod, beta",
                    "type": "synonym"
                },
                {
                    "name": "rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6b",
                    "type": "recommended"
                },
                {
                    "name": "Pde6b",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDI8-1",
            "evidence": [
                {
                    "id": "0110375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110375"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFI9-1",
            "uniprot_ac": "Q9VFI9",
            "uniprot_id": "PDE6_DROME",
            "refseq_ac": "NP_001287327",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-specific 3',5'-cyclic phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "CG8279-PD",
                    "type": "synonym"
                },
                {
                    "name": "DmPDE5/6",
                    "type": "synonym"
                },
                {
                    "name": "DmPDE6",
                    "type": "synonym"
                },
                {
                    "name": "Pde6-PD",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6",
                    "type": "recommended"
                },
                {
                    "name": "6",
                    "type": "synonym"
                },
                {
                    "name": "CG8279",
                    "type": "synonym"
                },
                {
                    "name": "DmPDE5/6",
                    "type": "synonym"
                },
                {
                    "name": "DmPDE6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8279",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8279",
                    "type": "synonym"
                },
                {
                    "name": "PDE5/6",
                    "type": "synonym"
                },
                {
                    "name": "PDE6",
                    "type": "synonym"
                },
                {
                    "name": "Pde6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFI9-1",
            "evidence": [
                {
                    "id": "0110375",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110375"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110375"
}