{
    "disease_id": "DOID:0110390",
    "recommended_name": {
        "id": "DOID:0110390",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110390",
        "name": "retinitis pigmentosa 1",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110390",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110390",
            "name": "RP1",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "retinitis pigmentosa 1",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene."
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "RP1",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "RP1 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "retinitis pigmentosa 1",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "retinitis pigmentosa caused by mutation in RP1",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "retinitis pigmentosa type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "RP",
            "description": ""
        },
        {
            "id": "MONDO:0008377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "name": "retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MIM:180100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180100",
            "name": "Retinitis pigmentosa 1",
            "description": "Retinitis pigmentosa 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110390"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110390",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110390",
            "categories": []
        },
        {
            "id": "MONDO:0008377",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008377",
            "categories": []
        },
        {
            "id": "MIM:180100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/180100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P56716-1",
            "uniprot_ac": "P56716",
            "uniprot_id": "RP1_MOUSE",
            "refseq_ac": "NP_035413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxygen-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Retinitis pigmentosa RP1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen-regulated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa RP1 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp1",
                    "type": "recommended"
                },
                {
                    "name": "Dcdc3",
                    "type": "synonym"
                },
                {
                    "name": "Gm38717",
                    "type": "synonym"
                },
                {
                    "name": "Orp1",
                    "type": "synonym"
                },
                {
                    "name": "Rp1h",
                    "type": "synonym"
                },
                {
                    "name": "Rp1",
                    "type": "synonym"
                },
                {
                    "name": "mG145",
                    "type": "synonym"
                }
            ],
            "record_id": "P56716-1",
            "evidence": [
                {
                    "id": "0110390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56715-1",
            "uniprot_ac": "P56715",
            "uniprot_id": "RP1_HUMAN",
            "refseq_ac": "NP_006260",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxygen-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Retinitis pigmentosa 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinitis pigmentosa RP1 protein",
                    "type": "synonym"
                },
                {
                    "name": "doublecortin domain containing 4A",
                    "type": "synonym"
                },
                {
                    "name": "oxygen-regulated protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa RP1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RP1",
                    "type": "recommended"
                },
                {
                    "name": "DCDC4A",
                    "type": "synonym"
                },
                {
                    "name": "ORP1",
                    "type": "synonym"
                },
                {
                    "name": "RP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P56715-1",
            "evidence": [
                {
                    "id": "180100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/180100"
                },
                {
                    "id": "0110390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110390"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ABP8-1",
            "uniprot_ac": "D4ABP8",
            "uniprot_id": "D4ABP8_RAT",
            "refseq_ac": "NP_001182605",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxygen-regulated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "lipoxygenase homology domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "oxygen-regulated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rCG30348-like",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1560182",
                    "type": "synonym"
                },
                {
                    "name": "Rp1h",
                    "type": "synonym"
                },
                {
                    "name": "Rp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ABP8-1",
            "evidence": [
                {
                    "id": "0110390",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110390"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110390"
}