{
    "disease_id": "DOID:0110008",
    "recommended_name": {
        "id": "DOID:0110008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110008",
        "name": "achromatopsia 3",
        "description": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2."
    },
    "synonyms": [
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "ACHM1",
            "description": ""
        },
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "ACHM3",
            "description": ""
        },
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "Pingelapese blindness",
            "description": ""
        },
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "RMCH1",
            "description": ""
        },
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "rod monochromacy 1",
            "description": ""
        },
        {
            "id": "DOID:0110008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "name": "rod monochromatism 1",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "achromatopsia 3",
            "description": "Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene."
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "ACHM3",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "CNGB3 achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "achromatopsia 3",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "achromatopsia caused by mutation in CNGB3",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "achromatopsia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "ACHM1 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "RMCH1 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "Rod monochromacy 1 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0009875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "name": "Rod monochromatism 1 (formerly)",
            "description": ""
        },
        {
            "id": "MIM:262300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/262300",
            "name": "Achromatopsia 3",
            "description": "Achromatopsia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110008",
            "categories": []
        },
        {
            "id": "MONDO:0009875",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009875",
            "categories": []
        },
        {
            "id": "MIM:262300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/262300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TKR5-1",
            "uniprot_ac": "A0AB32TKR5",
            "uniprot_id": "A0AB32TKR5_DANRE",
            "refseq_ac": "XP_068075500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cngb3.1",
                    "type": "recommended"
                },
                {
                    "name": "cngb3.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TKR5-1",
            "evidence": [
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJZ9-1",
            "uniprot_ac": "Q9JJZ9",
            "uniprot_id": "CNGB3_MOUSE",
            "refseq_ac": "NP_038955",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated channel subunit CNG6",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 6",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel subunit CNG6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cngb3",
                    "type": "recommended"
                },
                {
                    "name": "CCNC2",
                    "type": "synonym"
                },
                {
                    "name": "CNG6",
                    "type": "synonym"
                },
                {
                    "name": "Cng6",
                    "type": "synonym"
                },
                {
                    "name": "Cngb3",
                    "type": "synonym"
                },
                {
                    "name": "Cngbeta2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJZ9-1",
            "evidence": [
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQW8-1",
            "uniprot_ac": "Q9NQW8",
            "uniprot_id": "CNGB3_HUMAN",
            "refseq_ac": "NP_061971",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel beta-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel beta-3",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated cation channel beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel modulatory subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNGB3",
                    "type": "recommended"
                },
                {
                    "name": "ACHM1",
                    "type": "synonym"
                },
                {
                    "name": "CNGB3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQW8-1",
            "evidence": [
                {
                    "id": "262300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/262300"
                },
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LX27-1",
            "uniprot_ac": "F1LX27",
            "uniprot_id": "F1LX27_RAT",
            "refseq_ac": "NP_001258167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide gated channel subunit beta 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel beta 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cngb3",
                    "type": "recommended"
                },
                {
                    "name": "Cng6",
                    "type": "synonym"
                },
                {
                    "name": "Cngb3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565364",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LX27-1",
            "evidence": [
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41739-1",
            "uniprot_ac": "P41739",
            "uniprot_id": "ARNT_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aryl hydrocarbon receptor nuclear translocator",
                    "type": "recommended"
                },
                {
                    "name": "ARNT protein",
                    "type": "synonym"
                },
                {
                    "name": "Dioxin receptor, nuclear translocator",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1-beta",
                    "type": "synonym"
                },
                {
                    "name": "HIF1-beta",
                    "type": "synonym"
                },
                {
                    "name": "Hypoxia-inducible factor 1-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arnt",
                    "type": "recommended"
                }
            ],
            "record_id": "P41739-1",
            "evidence": [
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2D5-1",
            "uniprot_ac": "Q9W2D5",
            "uniprot_id": "Q9W2D5_DROME",
            "refseq_ac": "NP_611607",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17922-PA",
                    "type": "synonym"
                },
                {
                    "name": "CngB-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated ion channel subunit B, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic-nucleotide-gated ion channel protein beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated ion channel subunit B, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CngB",
                    "type": "recommended"
                },
                {
                    "name": "CG17922",
                    "type": "synonym"
                },
                {
                    "name": "Cncbeta",
                    "type": "synonym"
                },
                {
                    "name": "CngB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17922",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17922",
                    "type": "synonym"
                },
                {
                    "name": "dCNCbeta",
                    "type": "synonym"
                },
                {
                    "name": "dmCNGB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2D5-1",
            "evidence": [
                {
                    "id": "0110008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110008"
}