{
    "disease_id": "DOID:0110407",
    "recommended_name": {
        "id": "DOID:0110407",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110407",
        "name": "retinitis pigmentosa 57",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110407",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110407",
            "name": "RP57",
            "description": ""
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "retinitis pigmentosa 57",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene."
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "PDE6G retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "RP57",
            "description": ""
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "retinitis pigmentosa 57",
            "description": ""
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "retinitis pigmentosa caused by mutation in PDE6G",
            "description": ""
        },
        {
            "id": "MONDO:0013315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "name": "retinitis pigmentosa type 57",
            "description": ""
        },
        {
            "id": "MIM:613582",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613582",
            "name": "Retinitis pigmentosa 57",
            "description": "Retinitis pigmentosa 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110407"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110407",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110407",
            "categories": []
        },
        {
            "id": "MONDO:0013315",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013315",
            "categories": []
        },
        {
            "id": "MIM:613582",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613582",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P09174-1",
            "uniprot_ac": "P09174",
            "uniprot_id": "CNRG_MOUSE",
            "refseq_ac": "NP_036197",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "Rod GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "cGMP phosphodiesterase gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6g",
                    "type": "recommended"
                },
                {
                    "name": "Pde6g",
                    "type": "synonym"
                },
                {
                    "name": "Pdeg",
                    "type": "synonym"
                },
                {
                    "name": "p3AT",
                    "type": "synonym"
                }
            ],
            "record_id": "P09174-1",
            "evidence": [
                {
                    "id": "0110407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18545-1",
            "uniprot_ac": "P18545",
            "uniprot_id": "CNRG_HUMAN",
            "refseq_ac": "NP_002593",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "Rod GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6G, cGMP-specific, rod, gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "rod cG-PDE G",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE6G",
                    "type": "recommended"
                },
                {
                    "name": "PDE6G",
                    "type": "synonym"
                },
                {
                    "name": "PDEG",
                    "type": "synonym"
                },
                {
                    "name": "RP57",
                    "type": "synonym"
                }
            ],
            "record_id": "P18545-1",
            "evidence": [
                {
                    "id": "613582",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613582"
                },
                {
                    "id": "0110407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R4R9-1",
            "uniprot_ac": "M0R4R9",
            "uniprot_id": "M0R4R9_RAT",
            "refseq_ac": "NP_001385876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6G, cGMP-specific, rod, gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6g",
                    "type": "recommended"
                },
                {
                    "name": "Pde6g",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R4R9-1",
            "evidence": [
                {
                    "id": "0110407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110407"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110407"
}