{
    "disease_id": "DOID:0110713",
    "recommended_name": {
        "id": "DOID:0110713",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110713",
        "name": "Oguchi disease-2",
        "description": "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34."
    },
    "synonyms": [
        {
            "id": "DOID:0110713",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110713",
            "name": "CSNBO2",
            "description": ""
        },
        {
            "id": "DOID:0110713",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110713",
            "name": "congenital stationary night blindness Oguchi type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "name": "Oguchi disease-2",
            "description": "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene."
        },
        {
            "id": "MONDO:0013259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "name": "CSNBO2",
            "description": ""
        },
        {
            "id": "MONDO:0013259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "name": "GRK1 Oguchi disease",
            "description": ""
        },
        {
            "id": "MONDO:0013259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "name": "Oguchi disease caused by mutation in GRK1",
            "description": ""
        },
        {
            "id": "MONDO:0013259",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "name": "Oguchi disease type 2",
            "description": ""
        },
        {
            "id": "MIM:613411",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613411",
            "name": "Night blindness, congenital stationary, Oguchi type 2",
            "description": "Night blindness, congenital stationary, Oguchi type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110713"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110713",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110713",
            "categories": []
        },
        {
            "id": "MONDO:0013259",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013259",
            "categories": []
        },
        {
            "id": "MIM:613411",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613411",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVL4-1",
            "uniprot_ac": "Q9WVL4",
            "uniprot_id": "GRK1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin kinase GRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.14",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "RK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grk1",
                    "type": "recommended"
                },
                {
                    "name": "Rhok",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVL4-1",
            "evidence": [
                {
                    "id": "0110713",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110713"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15835-1",
            "uniprot_ac": "Q15835",
            "uniprot_id": "GRK1_HUMAN",
            "refseq_ac": "NP_002920",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin kinase GRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.14",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "RK",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin kinase GRK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRK1",
                    "type": "recommended"
                },
                {
                    "name": "GPRK1",
                    "type": "synonym"
                },
                {
                    "name": "GRK1",
                    "type": "synonym"
                },
                {
                    "name": "RHOK",
                    "type": "synonym"
                },
                {
                    "name": "RK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15835-1",
            "evidence": [
                {
                    "id": "613411",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613411"
                },
                {
                    "id": "0110713",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110713"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63651-1",
            "uniprot_ac": "Q63651",
            "uniprot_id": "GRK1_RAT",
            "refseq_ac": "NP_112358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin kinase GRK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.14",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptpr kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "RK",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin kinase GRK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grk1",
                    "type": "recommended"
                },
                {
                    "name": "Grk1",
                    "type": "synonym"
                },
                {
                    "name": "Rhok",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63651-1",
            "evidence": [
                {
                    "id": "0110713",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110713"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32866-1",
            "uniprot_ac": "P32866",
            "uniprot_id": "GPRK2_DROME",
            "refseq_ac": "NP_001263143",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.16",
                    "type": "synonym"
                },
                {
                    "name": "CG17998-PB",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor kinase 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Gprk2-PB",
                    "type": "synonym"
                },
                {
                    "name": "nosh",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gprk2",
                    "type": "recommended"
                },
                {
                    "name": "154978_at",
                    "type": "synonym"
                },
                {
                    "name": "CG17998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17998",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17998",
                    "type": "synonym"
                },
                {
                    "name": "GPRK2",
                    "type": "synonym"
                },
                {
                    "name": "Gprk 2",
                    "type": "synonym"
                },
                {
                    "name": "Gprk-2",
                    "type": "synonym"
                },
                {
                    "name": "Gprk2",
                    "type": "synonym"
                },
                {
                    "name": "gprk2",
                    "type": "synonym"
                },
                {
                    "name": "nosh",
                    "type": "synonym"
                }
            ],
            "record_id": "P32866-1",
            "evidence": [
                {
                    "id": "0110713",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110713"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110713"
}