{
    "disease_id": "DOID:0110865",
    "recommended_name": {
        "id": "DOID:0110865",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110865",
        "name": "congenital stationary night blindness 1B",
        "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0110865",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110865",
            "name": "CSNB1B",
            "description": ""
        },
        {
            "id": "DOID:0110865",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110865",
            "name": "congenital stationary night blindness 1B autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0110865",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110865",
            "name": "autosomal recessive complete congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "congenital stationary night blindness 1B",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene."
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "CSNB1B",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "GRM6 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "congenital stationary night blindness 1B",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "congenital stationary night blindness caused by mutation in GRM6",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "congenital stationary night blindness type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "night blindness, congenital stationary (complete), 1B, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009758",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "name": "night blindness, congenital stationary, type 1B",
            "description": ""
        },
        {
            "id": "MIM:257270",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257270",
            "name": "Night blindness, congenital stationary, 1B",
            "description": "Night blindness, congenital stationary, 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110865"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110865",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110865",
            "categories": []
        },
        {
            "id": "MONDO:0009758",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009758",
            "categories": []
        },
        {
            "id": "MIM:257270",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257270",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NCL0-1",
            "uniprot_ac": "A0A8M1NCL0",
            "uniprot_id": "A0A8M1NCL0_DANRE",
            "refseq_ac": "NP_001073489",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor, metabotropic 6b precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, metabotropic 6b precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, metabotropic a",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6b",
                    "type": "synonym"
                },
                {
                    "name": "mglur6b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grm6b",
                    "type": "recommended"
                },
                {
                    "name": "cb496",
                    "type": "synonym"
                },
                {
                    "name": "grm6b",
                    "type": "synonym"
                },
                {
                    "name": "grma",
                    "type": "synonym"
                },
                {
                    "name": "zK13A21.16",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158329",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NCL0-1",
            "evidence": [
                {
                    "id": "0110865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5NCH9-1",
            "uniprot_ac": "Q5NCH9",
            "uniprot_id": "GRM6_MOUSE",
            "refseq_ac": "NP_775548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 6",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor GRM6",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor, family C, group 1, member F",
                    "type": "synonym"
                },
                {
                    "name": "mGluR6",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grm6",
                    "type": "recommended"
                },
                {
                    "name": "Gm3",
                    "type": "synonym"
                },
                {
                    "name": "Gprc1f",
                    "type": "synonym"
                },
                {
                    "name": "Grm6",
                    "type": "synonym"
                },
                {
                    "name": "Mglur6",
                    "type": "synonym"
                },
                {
                    "name": "mGluR6",
                    "type": "synonym"
                },
                {
                    "name": "nerg1",
                    "type": "synonym"
                },
                {
                    "name": "nob2",
                    "type": "synonym"
                },
                {
                    "name": "nob3",
                    "type": "synonym"
                },
                {
                    "name": "nob4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5NCH9-1",
            "evidence": [
                {
                    "id": "0110865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15303-1",
            "uniprot_ac": "O15303",
            "uniprot_id": "GRM6_HUMAN",
            "refseq_ac": "NP_000834",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 6",
                    "type": "recommended"
                },
                {
                    "name": "glutamate receptor, metabotropic 6",
                    "type": "synonym"
                },
                {
                    "name": "mGluR6",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRM6",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1B",
                    "type": "synonym"
                },
                {
                    "name": "GPRC1F",
                    "type": "synonym"
                },
                {
                    "name": "GRM6",
                    "type": "synonym"
                },
                {
                    "name": "MGLUR6",
                    "type": "synonym"
                },
                {
                    "name": "mGlu6",
                    "type": "synonym"
                }
            ],
            "record_id": "O15303-1",
            "evidence": [
                {
                    "id": "257270",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/257270"
                },
                {
                    "id": "0110865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35349-1",
            "uniprot_ac": "P35349",
            "uniprot_id": "GRM6_RAT",
            "refseq_ac": "NP_075209",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 6",
                    "type": "recommended"
                },
                {
                    "name": "glutamate receptor, metabotropic 6",
                    "type": "synonym"
                },
                {
                    "name": "mGluR6",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grm6",
                    "type": "recommended"
                },
                {
                    "name": "Gprc1f",
                    "type": "synonym"
                },
                {
                    "name": "Grm6",
                    "type": "synonym"
                },
                {
                    "name": "Mglur6",
                    "type": "synonym"
                },
                {
                    "name": "mGluR6",
                    "type": "synonym"
                }
            ],
            "record_id": "P35349-1",
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                {
                    "id": "0110865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KF15-1",
            "uniprot_ac": "A0A0B4KF15",
            "uniprot_id": "A0A0B4KF15_DROME",
            "refseq_ac": "NP_001260806",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG30361-PG",
                    "type": "synonym"
                },
                {
                    "name": "DmX receptor",
                    "type": "synonym"
                },
                {
                    "name": "Mangetout, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "mXr",
                    "type": "synonym"
                },
                {
                    "name": "mangetout, isoform G",
                    "type": "synonym"
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                {
                    "name": "mtt-PG",
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                }
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                {
                    "name": "mtt",
                    "type": "recommended"
                },
                {
                    "name": "CG18447",
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                {
                    "name": "CG30361",
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                },
                {
                    "name": "CG8692",
                    "type": "synonym"
                },
                {
                    "name": "DmGluBR",
                    "type": "synonym"
                },
                {
                    "name": "DmGluRB",
                    "type": "synonym"
                },
                {
                    "name": "DmXR",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30361",
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                {
                    "name": "Dmel_CG30361",
                    "type": "synonym"
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                {
                    "name": "Glu-RB",
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                {
                    "name": "GluRB",
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                    "name": "Mtt",
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                {
                    "name": "anon-WO0170980.4",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.5",
                    "type": "synonym"
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                {
                    "name": "mXr",
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                {
                    "name": "mtt",
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            ],
            "record_id": "A0A0B4KF15-1",
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                    "id": "0110865",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26196-1",
            "uniprot_ac": "P26196",
            "uniprot_id": "DDX6_HUMAN",
            "refseq_ac": "NP_001244120",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable ATP-dependent RNA helicase DDX6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase p54",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box helicase 6",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 6",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 6",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box-6",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene RCK",
                    "type": "synonym"
                },
                {
                    "name": "oncogene RCK",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "probable ATP-dependent RNA helicase DDX6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX6",
                    "type": "recommended"
                },
                {
                    "name": "DDX6",
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                },
                {
                    "name": "HLR2",
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                },
                {
                    "name": "IDDILF",
                    "type": "synonym"
                },
                {
                    "name": "P54",
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                },
                {
                    "name": "RCK",
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                },
                {
                    "name": "Rck/p54",
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                }
            ],
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            "evidence": [
                {
                    "id": "0110865",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110865"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110865"
}