{
    "disease_id": "DOID:0061113",
    "recommended_name": {
        "id": "DOID:0061113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061113",
        "name": "retinitis pigmentosa 78",
        "description": "A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0061113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061113",
            "name": "RP78",
            "description": ""
        },
        {
            "id": "MONDO:0044314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044314",
            "name": "retinitis pigmentosa 78",
            "description": ""
        },
        {
            "id": "MONDO:0044314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044314",
            "name": "retinitis pigmentosa 78",
            "description": ""
        },
        {
            "id": "MONDO:0044314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044314",
            "name": "RP78",
            "description": ""
        },
        {
            "id": "MIM:617433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617433",
            "name": "Retinitis pigmentosa 78",
            "description": "Retinitis pigmentosa 78"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061113",
            "categories": []
        },
        {
            "id": "MONDO:0044314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044314",
            "categories": []
        },
        {
            "id": "MIM:617433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TGC8-1",
            "uniprot_ac": "A0AB32TGC8",
            "uniprot_id": "A0AB32TGC8_DANRE",
            "refseq_ac": "XP_068072537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 18 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef18b",
                    "type": "recommended"
                },
                {
                    "name": "arhgef18b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TGC8-1",
            "evidence": [
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AXD6-1",
            "uniprot_ac": "A0A8M3AXD6",
            "uniprot_id": "A0A8M3AXD6_DANRE",
            "refseq_ac": "XP_005171341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 18a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arhgef18a",
                    "type": "recommended"
                },
                {
                    "name": "arhgef18a",
                    "type": "synonym"
                },
                {
                    "name": "arhgef18",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc21e04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj05f11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85686",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXD6-1",
            "evidence": [
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P9R4-4",
            "uniprot_ac": "Q6P9R4",
            "uniprot_id": "ARHGI_MOUSE",
            "refseq_ac": "NP_598723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 18",
                    "type": "recommended"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18",
                    "type": "synonym"
                },
                {
                    "name": "rho/rac guanine nucleotide exchange factor (GEF) 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef18",
                    "type": "recommended"
                },
                {
                    "name": "A430078G23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arhgef18",
                    "type": "synonym"
                },
                {
                    "name": "D030053O22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0521",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P9R4-4",
            "evidence": [
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZSZ5-4",
            "uniprot_ac": "Q6ZSZ5",
            "uniprot_id": "ARHGI_HUMAN",
            "refseq_ac": "NP_056133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho guanine nucleotide exchange factor 18",
                    "type": "recommended"
                },
                {
                    "name": "114 kDa Rho-specific guanine nucleotide exchange factor",
                    "type": "synonym"
                },
                {
                    "name": "Rho-specific guanine nucleotide exchange factor p114",
                    "type": "synonym"
                },
                {
                    "name": "Rho/Rac guanine nucleotide exchange factor (GEF) 18",
                    "type": "synonym"
                },
                {
                    "name": "SA-RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "Septin-associated RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "p114-Rho-GEF",
                    "type": "synonym"
                },
                {
                    "name": "p114RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "septin-associated RhoGEF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF18",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF18",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0521",
                    "type": "synonym"
                },
                {
                    "name": "P114-RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "RP78",
                    "type": "synonym"
                },
                {
                    "name": "SA-RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "p114RhoGEF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZSZ5-4",
            "evidence": [
                {
                    "id": "617433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617433"
                },
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZLL3-1",
            "uniprot_ac": "A0A8I5ZLL3",
            "uniprot_id": "A0A8I5ZLL3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho/Rac guanine nucleotide exchange factor 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arhgef18",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZLL3-1",
            "evidence": [
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PBE1-1",
            "uniprot_ac": "M9PBE1",
            "uniprot_id": "M9PBE1_DROME",
            "refseq_ac": "NP_001260588",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10188-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cysts, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cyst-PC",
                    "type": "synonym"
                },
                {
                    "name": "cysts, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyst",
                    "type": "recommended"
                },
                {
                    "name": "CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Cysts",
                    "type": "synonym"
                },
                {
                    "name": "Cyst",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10188",
                    "type": "synonym"
                },
                {
                    "name": "Dp114/Cysts",
                    "type": "synonym"
                },
                {
                    "name": "Dp114RhoGEF",
                    "type": "synonym"
                },
                {
                    "name": "cyst",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PBE1-1",
            "evidence": [
                {
                    "id": "0061113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061113"
}