{
    "disease_id": "DOID:0110869",
    "recommended_name": {
        "id": "DOID:0110869",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110869",
        "name": "congenital stationary night blindness 1E",
        "description": "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110869",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110869",
            "name": "CSNB1E",
            "description": ""
        },
        {
            "id": "DOID:0110869",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110869",
            "name": "congenital stationary night blindness 1E autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "congenital stationary night blindness 1E",
            "description": "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene."
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "CSNB1E",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "GPR179 congenital stationary night blindness",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "congenital stationary night blindness 1E",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "congenital stationary night blindness caused by mutation in GPR179",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "congenital stationary night blindness type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "night blindness, congenital stationary (complete), 1E, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013807",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "name": "night blindness, congenital stationary, type 1E",
            "description": ""
        },
        {
            "id": "MIM:614565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614565",
            "name": "Night blindness, congenital stationary, 1E",
            "description": "Night blindness, congenital stationary, 1E"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110869"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110869",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110869",
            "categories": []
        },
        {
            "id": "MONDO:0013807",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013807",
            "categories": []
        },
        {
            "id": "MIM:614565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9PY61-1",
            "uniprot_ac": "E9PY61",
            "uniprot_id": "GP179_MOUSE",
            "refseq_ac": "NP_001074689",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 179",
                    "type": "recommended"
                },
                {
                    "name": "G-protein coupled receptor 179 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPR158-like 1 receptor",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 179",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr179",
                    "type": "recommended"
                },
                {
                    "name": "5330439C02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gpr158l1",
                    "type": "synonym"
                },
                {
                    "name": "Gpr179",
                    "type": "synonym"
                },
                {
                    "name": "Nob5",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PY61-1",
            "evidence": [
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PRD1-1",
            "uniprot_ac": "Q6PRD1",
            "uniprot_id": "GP179_HUMAN",
            "refseq_ac": "NP_001004334",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable G protein-coupled receptor 179",
                    "type": "recommended"
                },
                {
                    "name": "GPR158-like 1",
                    "type": "synonym"
                },
                {
                    "name": "GPR158-like",
                    "type": "synonym"
                },
                {
                    "name": "Probable G protein-coupled receptor 158-like 1",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 158-like 1",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 179 precursor",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 179",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPR179",
                    "type": "recommended"
                },
                {
                    "name": "CSNB1E",
                    "type": "synonym"
                },
                {
                    "name": "GPR158L1",
                    "type": "synonym"
                },
                {
                    "name": "GPR158L",
                    "type": "synonym"
                },
                {
                    "name": "GPR179",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PRD1-1",
            "evidence": [
                {
                    "id": "614565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614565"
                },
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQ18-1",
            "uniprot_ac": "A0ABK0LQ18",
            "uniprot_id": "A0ABK0LQ18_RAT",
            "refseq_ac": "XP_008766419",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein-coupled receptor 179",
                    "type": "synonym"
                },
                {
                    "name": "probable G-protein coupled receptor 179",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr179",
                    "type": "recommended"
                },
                {
                    "name": "Gpr179",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LQ18-1",
            "evidence": [
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKA4-3",
            "uniprot_ac": "Q9VKA4",
            "uniprot_id": "Y1760_DROME",
            "refseq_ac": "NP_001162962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable G protein-coupled receptor CG31760",
                    "type": "recommended"
                },
                {
                    "name": "CG31760-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:RE52162",
                    "type": "synonym"
                },
                {
                    "name": "CG17214",
                    "type": "synonym"
                },
                {
                    "name": "CG17215",
                    "type": "synonym"
                },
                {
                    "name": "CG31760",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31760",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKA4-3",
            "evidence": [
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DY43-1",
            "uniprot_ac": "A8DY43",
            "uniprot_id": "A8DY43_DROME",
            "refseq_ac": "NP_001097435",
            "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 receptors family 3 profile domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG43795-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG43795",
                    "type": "recommended"
                },
                {
                    "name": "CG13552",
                    "type": "synonym"
                },
                {
                    "name": "CG13553",
                    "type": "synonym"
                },
                {
                    "name": "CG13556",
                    "type": "synonym"
                },
                {
                    "name": "CG18678",
                    "type": "synonym"
                },
                {
                    "name": "CG18679",
                    "type": "synonym"
                },
                {
                    "name": "CG34372",
                    "type": "synonym"
                },
                {
                    "name": "CG43795",
                    "type": "synonym"
                },
                {
                    "name": "CG5357",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43795",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43795",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DY43-1",
            "evidence": [
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9ND25-1",
            "uniprot_ac": "M9ND25",
            "uniprot_id": "M9ND25_DROME",
            "refseq_ac": "NP_001245881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG31660-PD",
                    "type": "synonym"
                },
                {
                    "name": "Smog, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "poor gastrulation",
                    "type": "synonym"
                },
                {
                    "name": "smog, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "smog-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smog",
                    "type": "recommended"
                },
                {
                    "name": "CG11923",
                    "type": "synonym"
                },
                {
                    "name": "CG11925",
                    "type": "synonym"
                },
                {
                    "name": "CG31660",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31660",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31660",
                    "type": "synonym"
                },
                {
                    "name": "Smog",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.181",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0170980.182",
                    "type": "synonym"
                },
                {
                    "name": "pog",
                    "type": "synonym"
                },
                {
                    "name": "smog",
                    "type": "synonym"
                }
            ],
            "record_id": "M9ND25-1",
            "evidence": [
                {
                    "id": "0110869",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110869"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110869"
}