{
    "disease_id": "DOID:0110383",
    "recommended_name": {
        "id": "DOID:0110383",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110383",
        "name": "retinitis pigmentosa 7",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110383",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110383",
            "name": "RP7",
            "description": ""
        },
        {
            "id": "MONDO:0011974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "name": "retinitis pigmentosa 7",
            "description": "A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported."
        },
        {
            "id": "MONDO:0011974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "name": "RP 7",
            "description": ""
        },
        {
            "id": "MONDO:0011974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "name": "RP7",
            "description": ""
        },
        {
            "id": "MONDO:0011974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "name": "retinitis pigmentosa 7",
            "description": ""
        },
        {
            "id": "MONDO:0011974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "name": "retinitis pigmentosa type 7",
            "description": ""
        },
        {
            "id": "MIM:608133",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608133",
            "name": "Retinitis pigmentosa 7",
            "description": "Retinitis pigmentosa 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110383"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110383",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110383",
            "categories": []
        },
        {
            "id": "MONDO:0011974",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011974",
            "categories": []
        },
        {
            "id": "MIM:608133",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608133",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PID1-1",
            "uniprot_ac": "A0A8M1PID1",
            "uniprot_id": "A0A8M1PID1_DANRE",
            "refseq_ac": "NP_957308",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod outer segment membrane protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane protein 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rom1b",
                    "type": "recommended"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                },
                {
                    "name": "rom1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56548",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PID1-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15499-1",
            "uniprot_ac": "P15499",
            "uniprot_id": "PRPH2_MOUSE",
            "refseq_ac": "NP_032964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration, slow (retinitis pigmentosa 7)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prph2",
                    "type": "recommended"
                },
                {
                    "name": "AOFMD",
                    "type": "synonym"
                },
                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "Nmf193",
                    "type": "synonym"
                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "Prph2",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "Rd-2",
                    "type": "synonym"
                },
                {
                    "name": "Rd2",
                    "type": "synonym"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                },
                {
                    "name": "Tspan22",
                    "type": "synonym"
                },
                {
                    "name": "rds",
                    "type": "synonym"
                }
            ],
            "record_id": "P15499-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32958-1",
            "uniprot_ac": "P32958",
            "uniprot_id": "ROM1_MOUSE",
            "refseq_ac": "NP_033099",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod outer segment membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ROSP1",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rom1",
                    "type": "recommended"
                },
                {
                    "name": "M101156",
                    "type": "synonym"
                },
                {
                    "name": "Rgsc1156",
                    "type": "synonym"
                },
                {
                    "name": "Rom-1",
                    "type": "synonym"
                },
                {
                    "name": "Rom1",
                    "type": "synonym"
                },
                {
                    "name": "Rosp1",
                    "type": "synonym"
                },
                {
                    "name": "Tspan23",
                    "type": "synonym"
                }
            ],
            "record_id": "P32958-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03395-1",
            "uniprot_ac": "Q03395",
            "uniprot_id": "ROM1_HUMAN",
            "refseq_ac": "NP_000318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod outer segment membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ROSP1",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin-23",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-23",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROM1",
                    "type": "recommended"
                },
                {
                    "name": "ROM1",
                    "type": "synonym"
                },
                {
                    "name": "ROM",
                    "type": "synonym"
                },
                {
                    "name": "ROSP1",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03395-1",
            "evidence": [
                {
                    "id": "608133",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608133"
                },
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23942-1",
            "uniprot_ac": "P23942",
            "uniprot_id": "PRPH2_HUMAN",
            "refseq_ac": "NP_000313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-22",
                    "type": "synonym"
                },
                {
                    "name": "choroidal dystrophy, central areolar 2",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2 (retinal degeneration, slow)",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2, homolog of mouse",
                    "type": "synonym"
                },
                {
                    "name": "peripherin, photoreceptor type",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal peripherin",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "tspan-22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPH2",
                    "type": "recommended"
                },
                {
                    "name": "AOFMD",
                    "type": "synonym"
                },
                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "CACD2",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "MDBS1",
                    "type": "synonym"
                },
                {
                    "name": "PRPH2",
                    "type": "synonym"
                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "RDS",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN22",
                    "type": "synonym"
                },
                {
                    "name": "rd2",
                    "type": "synonym"
                }
            ],
            "record_id": "P23942-1",
            "evidence": [
                {
                    "id": "608133",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608133"
                },
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PPM7-1",
            "uniprot_ac": "Q5PPM7",
            "uniprot_id": "ROM1_RAT",
            "refseq_ac": "NP_001009690",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rod outer segment membrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ROSP1",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rom1",
                    "type": "recommended"
                },
                {
                    "name": "Rom1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PPM7-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17438-1",
            "uniprot_ac": "P17438",
            "uniprot_id": "PRPH2_RAT",
            "refseq_ac": "NP_037153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prph2",
                    "type": "recommended"
                },
                {
                    "name": "Prph2",
                    "type": "synonym"
                },
                {
                    "name": "RSRDS",
                    "type": "synonym"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                }
            ],
            "record_id": "P17438-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKF3-1",
            "uniprot_ac": "Q9VKF3",
            "uniprot_id": "Q9VKF3_DROME",
            "refseq_ac": "NP_523552",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14936-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin 33B",
                    "type": "synonym"
                },
                {
                    "name": "Tsp33B-PA",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tsp33B",
                    "type": "recommended"
                },
                {
                    "name": "CG14936",
                    "type": "synonym"
                },
                {
                    "name": "Dm.Tsp33B",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14936",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14936",
                    "type": "synonym"
                },
                {
                    "name": "Tsp33B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKF3-1",
            "evidence": [
                {
                    "id": "0110383",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110383"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110383"
}