{
    "disease_id": "DOID:0110353",
    "recommended_name": {
        "id": "DOID:0110353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110353",
        "name": "retinitis pigmentosa 20",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0110353",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110353",
            "name": "RP20",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "retinitis pigmentosa 20",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene."
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "RP20",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "RPE65 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "retinitis pigmentosa 20",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "retinitis pigmentosa caused by mutation in RPE65",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "retinitis pigmentosa type 20",
            "description": ""
        },
        {
            "id": "MONDO:0013425",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "name": "RP 20",
            "description": ""
        },
        {
            "id": "MIM:613794",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613794",
            "name": "Retinitis pigmentosa 20",
            "description": "Retinitis pigmentosa 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110353"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110353",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110353",
            "categories": []
        },
        {
            "id": "MONDO:0013425",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013425",
            "categories": []
        },
        {
            "id": "MIM:613794",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613794",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A9C3R8-1",
            "uniprot_ac": "A9C3R8",
            "uniprot_id": "RP65C_DANRE",
            "refseq_ac": "NP_001107125",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal Mueller cells isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.64",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinyl ester 13-cis isomerohydrolase C",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinylester 11-cis isomerohydrolase C",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "RPE56c",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein homolog C",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "retinal Mueller cells isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein 65c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpe65c",
                    "type": "recommended"
                },
                {
                    "name": "RPE56c",
                    "type": "synonym"
                },
                {
                    "name": "rpe65c",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-198n5.12",
                    "type": "synonym"
                }
            ],
            "record_id": "A9C3R8-1",
            "evidence": [
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PBW5-1",
            "uniprot_ac": "Q6PBW5",
            "uniprot_id": "RP65A_DANRE",
            "refseq_ac": "NP_957045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoid isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.64",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinylester 11-cis isomerohydrolase A",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "RPE56a",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-retinylester 11-cis isomerohydrolase A",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium 65a",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific 65 kDa protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein 65a",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein a",
                    "type": "synonym"
                },
                {
                    "name": "retinoid isomerohydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpe65a",
                    "type": "recommended"
                },
                {
                    "name": "RPE56a",
                    "type": "synonym"
                },
                {
                    "name": "rpe65a",
                    "type": "synonym"
                },
                {
                    "name": "rpepa",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73213",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PBW5-1",
            "evidence": [
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A9C3R9-1",
            "uniprot_ac": "A9C3R9",
            "uniprot_id": "RP65B_DANRE",
            "refseq_ac": "NP_001082902",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "All-trans-retinyl ester 13-cis isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "13cIMH",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.90",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "RPE56b",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-retinyl ester 13-cis isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium 65b",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific 65 kDa protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein 65b",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpe65b",
                    "type": "recommended"
                },
                {
                    "name": "RPE56b",
                    "type": "synonym"
                },
                {
                    "name": "rpe65b",
                    "type": "synonym"
                },
                {
                    "name": "rpepb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-198n5.5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc74c09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110538",
                    "type": "synonym"
                }
            ],
            "record_id": "A9C3R9-1",
            "evidence": [
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZQ5-1",
            "uniprot_ac": "Q91ZQ5",
            "uniprot_id": "RPE65_MOUSE",
            "refseq_ac": "NP_084263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoid isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.64",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "modifier of retinal degeneration 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium, 65 kDa",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "retinoid isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpe65",
                    "type": "recommended"
                },
                {
                    "name": "65kDa",
                    "type": "synonym"
                },
                {
                    "name": "A930029L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "LCA2",
                    "type": "synonym"
                },
                {
                    "name": "Mord1",
                    "type": "synonym"
                },
                {
                    "name": "RP20",
                    "type": "synonym"
                },
                {
                    "name": "Rpe65",
                    "type": "synonym"
                },
                {
                    "name": "rd12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZQ5-1",
            "evidence": [
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16518-1",
            "uniprot_ac": "Q16518",
            "uniprot_id": "RPE65_HUMAN",
            "refseq_ac": "NP_000320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoid isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.64",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "BCO family, member 3",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "RBP-binding membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "RPE65, retinoid isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium specific protein 65",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein 65kDa",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 20 (autosomal recessive)",
                    "type": "synonym"
                },
                {
                    "name": "retinoid isomerohydrolase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPE65",
                    "type": "recommended"
                },
                {
                    "name": "BCO3",
                    "type": "synonym"
                },
                {
                    "name": "LCA2",
                    "type": "synonym"
                },
                {
                    "name": "RP20",
                    "type": "synonym"
                },
                {
                    "name": "RPE65",
                    "type": "synonym"
                },
                {
                    "name": "mRPE65",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "rd12",
                    "type": "synonym"
                },
                {
                    "name": "sRPE65",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16518-1",
            "evidence": [
                {
                    "id": "613794",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613794"
                },
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70276-1",
            "uniprot_ac": "O70276",
            "uniprot_id": "RPE65_RAT",
            "refseq_ac": "NP_446014",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinoid isomerohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.64",
                    "type": "synonym"
                },
                {
                    "name": "5.3.3.22",
                    "type": "synonym"
                },
                {
                    "name": "All-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "RPE65, retinoid isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinol isomerase",
                    "type": "synonym"
                },
                {
                    "name": "all-trans-retinyl-palmitate hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lutein isomerase",
                    "type": "synonym"
                },
                {
                    "name": "meso-zeaxanthin isomerase",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium 65-like",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium 65",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific 65 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal pigment epithelium-specific protein 65",
                    "type": "synonym"
                },
                {
                    "name": "retinoid isomerohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "retinol isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpe65",
                    "type": "recommended"
                },
                {
                    "name": "Rpe65",
                    "type": "synonym"
                }
            ],
            "record_id": "O70276-1",
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                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFS2-1",
            "uniprot_ac": "Q9VFS2",
            "uniprot_id": "NINAB_DROME",
            "refseq_ac": "NP_650307",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carotenoid isomerooxygenase",
                    "type": "recommended"
                },
                {
                    "name": "1.13.11.65",
                    "type": "synonym"
                },
                {
                    "name": "Beta-carotene 15,15'-monooxygenase and retinoid isomerase",
                    "type": "synonym"
                },
                {
                    "name": "Beta-carotene dioxygenase and retinoid isomerase",
                    "type": "synonym"
                },
                {
                    "name": "CG9347-PA",
                    "type": "synonym"
                },
                {
                    "name": "Neither inactivation nor afterpotential mutant B",
                    "type": "synonym"
                },
                {
                    "name": "beta-carotene dioxygenase",
                    "type": "synonym"
                },
                {
                    "name": "neither inactivation nor afterpotential B",
                    "type": "synonym"
                },
                {
                    "name": "ninaB-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ninaB",
                    "type": "recommended"
                },
                {
                    "name": "CG9347",
                    "type": "synonym"
                },
                {
                    "name": "DRPE65",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9347",
                    "type": "synonym"
                },
                {
                    "name": "RPE65",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0148162.1",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0148163.1",
                    "type": "synonym"
                },
                {
                    "name": "beta-diox",
                    "type": "synonym"
                },
                {
                    "name": "ninaB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFS2-1",
            "evidence": [
                {
                    "id": "0110353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110353"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110353"
}