{
    "disease_id": "DOID:0110866",
    "recommended_name": {
        "id": "DOID:0110866",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110866",
        "name": "congenital stationary night blindness 1H",
        "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110866",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110866",
            "name": "CSNB1H",
            "description": ""
        },
        {
            "id": "DOID:0110866",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110866",
            "name": "congenital stationary night blindness type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "congenital stationary night blindness 1H",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene."
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "CSNB1H",
            "description": ""
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "GNB3 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "congenital stationary night blindness caused by mutation in GNB3",
            "description": ""
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "congenital stationary night blindness type 1H",
            "description": ""
        },
        {
            "id": "MONDO:0014872",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "name": "night blindness, congenital stationary, type 1H",
            "description": ""
        },
        {
            "id": "MIM:617024",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617024",
            "name": "Night blindness, congenital stationary, 1H",
            "description": "Night blindness, congenital stationary, 1H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110866"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110866",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110866",
            "categories": []
        },
        {
            "id": "MONDO:0014872",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014872",
            "categories": []
        },
        {
            "id": "MIM:617024",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617024",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DH55-1",
            "uniprot_ac": "Q6DH55",
            "uniprot_id": "Q6DH55_DANRE",
            "refseq_ac": "NP_001002437",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3a",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 3, like",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnb3a",
                    "type": "recommended"
                },
                {
                    "name": "gnb3a",
                    "type": "synonym"
                },
                {
                    "name": "gnb3l",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92641",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DH55-1",
            "evidence": [
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61011-1",
            "uniprot_ac": "Q61011",
            "uniprot_id": "GBB3_MOUSE",
            "refseq_ac": "NP_038558",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "Transducin beta chain 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2d",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb3",
                    "type": "recommended"
                },
                {
                    "name": "Gnb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gnb3",
                    "type": "synonym"
                },
                {
                    "name": "Hg2d",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61011-1",
            "evidence": [
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16520-1",
            "uniprot_ac": "P16520",
            "uniprot_id": "GBB3_HUMAN",
            "refseq_ac": "NP_001284500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "G protein, beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding regulatory protein beta-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2D",
                    "type": "synonym"
                },
                {
                    "name": "hypertension associated protein",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNB3",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1H",
                    "type": "synonym"
                },
                {
                    "name": "GNB3",
                    "type": "synonym"
                },
                {
                    "name": "HG2D",
                    "type": "synonym"
                }
            ],
            "record_id": "P16520-1",
            "evidence": [
                {
                    "id": "617024",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617024"
                },
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18851-1",
            "uniprot_ac": "P18851",
            "uniprot_id": "GBB_YEAST",
            "refseq_ac": "NP_014855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "G protein subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE4",
                    "type": "recommended"
                },
                {
                    "name": "HMD2",
                    "type": "synonym"
                },
                {
                    "name": "STE4",
                    "type": "synonym"
                },
                {
                    "name": "YOR50-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P18851-1",
            "evidence": [
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52287-1",
            "uniprot_ac": "P52287",
            "uniprot_id": "GBB3_RAT",
            "refseq_ac": "NP_068630",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "G protein beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transducin beta chain 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), beta polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, beta 3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein, beta-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 2d",
                    "type": "synonym"
                },
                {
                    "name": "transducin beta chain 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnb3",
                    "type": "recommended"
                },
                {
                    "name": "Gnb3",
                    "type": "synonym"
                },
                {
                    "name": "Hg2d",
                    "type": "synonym"
                }
            ],
            "record_id": "P52287-1",
            "evidence": [
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26308-1",
            "uniprot_ac": "P26308",
            "uniprot_id": "GBB1_DROME",
            "refseq_ac": "NP_001303567",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "CG10545-PH",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta subunit 13F, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein beta-subunit 13F",
                    "type": "synonym"
                },
                {
                    "name": "G-protein beta 13F",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta]] brain",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13F-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gbeta13F",
                    "type": "recommended"
                },
                {
                    "name": "4 like",
                    "type": "synonym"
                },
                {
                    "name": "CG10545",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10545",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10545",
                    "type": "synonym"
                },
                {
                    "name": "G b13F",
                    "type": "synonym"
                },
                {
                    "name": "G protein &bgr",
                    "type": "synonym"
                },
                {
                    "name": "G-betab",
                    "type": "synonym"
                },
                {
                    "name": "G-beta",
                    "type": "synonym"
                },
                {
                    "name": "GNB1/2/3/4 like",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta13F]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[beta]]",
                    "type": "synonym"
                },
                {
                    "name": "Gb13F",
                    "type": "synonym"
                },
                {
                    "name": "Gbb",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13F",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta13",
                    "type": "synonym"
                },
                {
                    "name": "Gbeta",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.22",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.22",
                    "type": "synonym"
                },
                {
                    "name": "dgbeta",
                    "type": "synonym"
                },
                {
                    "name": "gbeta13F",
                    "type": "synonym"
                }
            ],
            "record_id": "P26308-1",
            "evidence": [
                {
                    "id": "0110866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110866"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110866"
}