{
    "disease_id": "DOID:0061113",
    "recommended_name": {
        "id": "DOID:0061113",
        "resource": "Disease Ontology",
        "url": "http://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": "http://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": "http://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": "Q6ZSZ5-4",
            "uniprot_ac": "Q6ZSZ5",
            "uniprot_id": "ARHGI_HUMAN",
            "refseq_ac": "NP_001124427",
            "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",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "114 kDa Rho-specific guanine nucleotide exchange factor",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Rho-specific guanine nucleotide exchange factor p114; septin-associated RhoGEF; 114 kDa Rho-specific guanine nucleotide exchange factor; Rho/Rac guanine nucleotide exchange factor (GEF) 18",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "SA-RhoGEF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Septin-associated RhoGEF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "p114-Rho-GEF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "p114RhoGEF",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "rho guanine nucleotide exchange factor 18 isoform b",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGEF18",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "ARHGEF18",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0521",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "P114-RhoGEF; p114RhoGEF; RP78; SA-RhoGEF",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "617433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061113"
}