{
    "disease_id": "DOID:0110862",
    "recommended_name": {
        "id": "DOID:0110862",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110862",
        "name": "congenital stationary night blindness autosomal dominant 1",
        "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110862",
            "name": "rhodopsin-related congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "DOID:0110862",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110862",
            "name": "CSNBAD1",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "congenital stationary night blindness autosomal dominant 1",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene."
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "CSNBAD1",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "RHO congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "congenital stationary night blindness autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "congenital stationary night blindness caused by mutation in RHO",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "night blindness, congenital stationary, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "name": "night blindness, congenital stationary, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MIM:610445",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610445",
            "name": "Night blindness, congenital stationary, autosomal dominant 1",
            "description": "Night blindness, congenital stationary, autosomal dominant 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110862"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110862",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110862",
            "categories": []
        },
        {
            "id": "MONDO:0012498",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012498",
            "categories": []
        },
        {
            "id": "MIM:610445",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610445",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35359-1",
            "uniprot_ac": "P35359",
            "uniprot_id": "OPSD_DANRE",
            "refseq_ac": "NP_571159",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin",
                    "type": "recommended"
                },
                {
                    "name": "retinal rod opsin pigment rh1.1",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin-like-1.1 rod opsin",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rho",
                    "type": "recommended"
                },
                {
                    "name": "RH1",
                    "type": "synonym"
                },
                {
                    "name": "Rh",
                    "type": "synonym"
                },
                {
                    "name": "rh1.1",
                    "type": "synonym"
                },
                {
                    "name": "rho",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi06d11",
                    "type": "synonym"
                },
                {
                    "name": "zfo2",
                    "type": "synonym"
                },
                {
                    "name": "zfrho",
                    "type": "synonym"
                }
            ],
            "record_id": "P35359-1",
            "evidence": [
                {
                    "id": "0110862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15409-1",
            "uniprot_ac": "P15409",
            "uniprot_id": "OPSD_MOUSE",
            "refseq_ac": "NP_663358",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin",
                    "type": "recommended"
                },
                {
                    "name": "L opsin",
                    "type": "synonym"
                },
                {
                    "name": "LWS opsin",
                    "type": "synonym"
                },
                {
                    "name": "long wavelength sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "opsin 2",
                    "type": "synonym"
                },
                {
                    "name": "red opsin",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin",
                    "type": "synonym"
                },
                {
                    "name": "rod opsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rho",
                    "type": "recommended"
                },
                {
                    "name": "Noerg1",
                    "type": "synonym"
                },
                {
                    "name": "Opn2",
                    "type": "synonym"
                },
                {
                    "name": "Ops",
                    "type": "synonym"
                },
                {
                    "name": "RP4",
                    "type": "synonym"
                },
                {
                    "name": "Rho",
                    "type": "synonym"
                }
            ],
            "record_id": "P15409-1",
            "evidence": [
                {
                    "id": "0110862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08100-1",
            "uniprot_ac": "P08100",
            "uniprot_id": "OPSD_HUMAN",
            "refseq_ac": "NP_000530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin",
                    "type": "recommended"
                },
                {
                    "name": "Opsin-2",
                    "type": "synonym"
                },
                {
                    "name": "opsin 2, rod pigment",
                    "type": "synonym"
                },
                {
                    "name": "opsin-2",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RHO",
                    "type": "recommended"
                },
                {
                    "name": "CSNBAD1",
                    "type": "synonym"
                },
                {
                    "name": "OPN2",
                    "type": "synonym"
                },
                {
                    "name": "RHO",
                    "type": "synonym"
                },
                {
                    "name": "RP4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08100-1",
            "evidence": [
                {
                    "id": "610445",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610445"
                },
                {
                    "id": "0110862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51489-1",
            "uniprot_ac": "P51489",
            "uniprot_id": "OPSD_RAT",
            "refseq_ac": "NP_254276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin",
                    "type": "recommended"
                },
                {
                    "name": "Rhodopsin (retinitis pigmentosa 4, autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rho",
                    "type": "recommended"
                },
                {
                    "name": "Rho",
                    "type": "synonym"
                }
            ],
            "record_id": "P51489-1",
            "evidence": [
                {
                    "id": "0110862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110862"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13158-1",
            "uniprot_ac": "Q13158",
            "uniprot_id": "FADD_HUMAN",
            "refseq_ac": "NP_003815",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "FAS-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas (TNFRSF6)-associated via death domain",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associating protein with death domain",
                    "type": "synonym"
                },
                {
                    "name": "Growth-inhibiting gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of receptor induced toxicity",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of receptor-induced toxicity",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FADD",
                    "type": "recommended"
                },
                {
                    "name": "FADD",
                    "type": "synonym"
                },
                {
                    "name": "GIG3",
                    "type": "synonym"
                },
                {
                    "name": "IMD90",
                    "type": "synonym"
                },
                {
                    "name": "MORT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13158-1",
            "evidence": [
                {
                    "id": "0110862",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110862"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110862"
}