{
    "disease_id": "DOID:0112145",
    "recommended_name": {
        "id": "DOID:0112145",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112145",
        "name": "retinitis pigmentosa 88",
        "description": "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112145",
            "name": "RP88",
            "description": ""
        },
        {
            "id": "MONDO:0032940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032940",
            "name": "retinitis pigmentosa 88",
            "description": ""
        },
        {
            "id": "MONDO:0032940",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032940",
            "name": "RP88",
            "description": ""
        },
        {
            "id": "MIM:618826",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618826",
            "name": "Retinitis pigmentosa 88",
            "description": "Retinitis pigmentosa 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112145"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112145",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112145",
            "categories": []
        },
        {
            "id": "MONDO:0032940",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032940",
            "categories": []
        },
        {
            "id": "MIM:618826",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618826",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F542-1",
            "uniprot_ac": "E7F542",
            "uniprot_id": "E7F542_DANRE",
            "refseq_ac": "XP_017208190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein rp1l1b",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein rp1l1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rp1l1b",
                    "type": "recommended"
                },
                {
                    "name": "rp1l1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F542-1",
            "evidence": [
                {
                    "id": "0112145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BH38-1",
            "uniprot_ac": "A0A8M2BH38",
            "uniprot_id": "A0A8M2BH38_DANRE",
            "refseq_ac": "XP_005169865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinitis pigmentosa 1-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rp1l1a",
                    "type": "recommended"
                },
                {
                    "name": "rp1l1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BH38-1",
            "evidence": [
                {
                    "id": "0112145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGM2-1",
            "uniprot_ac": "Q8CGM2",
            "uniprot_id": "RP1L1_MOUSE",
            "refseq_ac": "NP_666358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinitis pigmentosa 1-like 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "Retinitis pigmentosa 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp1l1",
                    "type": "recommended"
                },
                {
                    "name": "Dcdc4",
                    "type": "synonym"
                },
                {
                    "name": "Rp1hl1",
                    "type": "synonym"
                },
                {
                    "name": "Rp1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGM2-1",
            "evidence": [
                {
                    "id": "0112145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IWN7-1",
            "uniprot_ac": "Q8IWN7",
            "uniprot_id": "RP1L1_HUMAN",
            "refseq_ac": "NP_849188",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinitis pigmentosa 1-like 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "doublecortin domain containing 4B",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like 1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RP1L1",
                    "type": "recommended"
                },
                {
                    "name": "DCDC4B",
                    "type": "synonym"
                },
                {
                    "name": "OCMD",
                    "type": "synonym"
                },
                {
                    "name": "RP1L1",
                    "type": "synonym"
                },
                {
                    "name": "RP88",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IWN7-1",
            "evidence": [
                {
                    "id": "618826",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618826"
                },
                {
                    "id": "0112145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0R410-1",
            "uniprot_ac": "M0R410",
            "uniprot_id": "M0R410_RAT",
            "refseq_ac": "NP_001408014",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "RP1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 1-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp1l1",
                    "type": "recommended"
                },
                {
                    "name": "LOC683404",
                    "type": "synonym"
                },
                {
                    "name": "Rp1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "M0R410-1",
            "evidence": [
                {
                    "id": "0112145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112145"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112145"
}