{
    "disease_id": "DOID:0110007",
    "recommended_name": {
        "id": "DOID:0110007",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110007",
        "name": "achromatopsia 2",
        "description": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110007",
            "name": "ACHM2",
            "description": ""
        },
        {
            "id": "DOID:0110007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110007",
            "name": "RMCH2",
            "description": ""
        },
        {
            "id": "DOID:0110007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110007",
            "name": "rod monochromacy 2",
            "description": ""
        },
        {
            "id": "DOID:0110007",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110007",
            "name": "rod monochromatism 2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "achromatopsia 2",
            "description": "Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms."
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "ACHM2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "CNGA3 achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "RMCH2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "achromatopsia 2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "achromatopsia caused by mutation in CNGA3",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "achromatopsia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "rod monochromacy 2",
            "description": ""
        },
        {
            "id": "MONDO:0009003",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "name": "rod monochromatism 2",
            "description": ""
        },
        {
            "id": "MIM:216900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/216900",
            "name": "Achromatopsia 2",
            "description": "Achromatopsia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110007"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110007",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110007",
            "categories": []
        },
        {
            "id": "MONDO:0009003",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009003",
            "categories": []
        },
        {
            "id": "MIM:216900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/216900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDH8-1",
            "uniprot_ac": "A0A8M2BDH8",
            "uniprot_id": "A0A8M2BDH8_DANRE",
            "refseq_ac": "XP_005166141",
            "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 cone photoreceptor subunit alpha isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel cone photoreceptor subunit alpha isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnga3a",
                    "type": "recommended"
                },
                {
                    "name": "cnga3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDH8-1",
            "evidence": [
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJZ8-1",
            "uniprot_ac": "Q9JJZ8",
            "uniprot_id": "CNGA3_MOUSE",
            "refseq_ac": "NP_001268939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "CNGgust",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Gustatory cyclic nucleotide-gated cation channel",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel subunit alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "gustatory cyclic nucleotide-gated cation channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnga3",
                    "type": "recommended"
                },
                {
                    "name": "CNG-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "Cng3",
                    "type": "synonym"
                },
                {
                    "name": "Cnga3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJZ8-1",
            "evidence": [
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16281-1",
            "uniprot_ac": "Q16281",
            "uniprot_id": "CNGA3_HUMAN",
            "refseq_ac": "NP_001073347",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated channel alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-3 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNGA3",
                    "type": "recommended"
                },
                {
                    "name": "ACHM2",
                    "type": "synonym"
                },
                {
                    "name": "CCNC1",
                    "type": "synonym"
                },
                {
                    "name": "CCNCalpha",
                    "type": "synonym"
                },
                {
                    "name": "CCNCa",
                    "type": "synonym"
                },
                {
                    "name": "CNCG3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "CNGA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16281-1",
            "evidence": [
                {
                    "id": "216900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/216900"
                },
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER33-1",
            "uniprot_ac": "Q9ER33",
            "uniprot_id": "CNGA3_RAT",
            "refseq_ac": "NP_001385615",
            "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 alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "CNG channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "CNGgust",
                    "type": "synonym"
                },
                {
                    "name": "Cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "Gustatory cyclic nucleotide-gated cation channel",
                    "type": "synonym"
                },
                {
                    "name": "cone photoreceptor cGMP-gated channel subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide gated channel alpha 3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated cation channel alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated channel alpha-3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "gustatory cyclic nucleotide-gated cation channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnga3",
                    "type": "recommended"
                },
                {
                    "name": "CNG-3",
                    "type": "synonym"
                },
                {
                    "name": "CNG3",
                    "type": "synonym"
                },
                {
                    "name": "CNGgust",
                    "type": "synonym"
                },
                {
                    "name": "Cnga3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER33-1",
            "evidence": [
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07824-1",
            "uniprot_ac": "P07824",
            "uniprot_id": "ARGI1_RAT",
            "refseq_ac": "NP_058830",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arginase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.5.3.1",
                    "type": "synonym"
                },
                {
                    "name": "AI type I arginase",
                    "type": "synonym"
                },
                {
                    "name": "Liver-type arginase",
                    "type": "synonym"
                },
                {
                    "name": "Type I arginase",
                    "type": "synonym"
                },
                {
                    "name": "arginase, liver",
                    "type": "synonym"
                },
                {
                    "name": "arginase-1",
                    "type": "synonym"
                },
                {
                    "name": "liver-type arginase",
                    "type": "synonym"
                },
                {
                    "name": "type I arginase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arg1",
                    "type": "recommended"
                },
                {
                    "name": "Arg1",
                    "type": "synonym"
                }
            ],
            "record_id": "P07824-1",
            "evidence": [
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24278-1",
            "uniprot_ac": "Q24278",
            "uniprot_id": "CNGA_DROME",
            "refseq_ac": "NP_477116",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic nucleotide-gated cation channel subunit A",
                    "type": "recommended"
                },
                {
                    "name": "CG42701-PA",
                    "type": "synonym"
                },
                {
                    "name": "CNG channel alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "CNG channel",
                    "type": "synonym"
                },
                {
                    "name": "CNG-channel",
                    "type": "synonym"
                },
                {
                    "name": "CngA-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic nucleotide-gated ion channel subunit A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic-nucleotide-gated ion channel protein",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide-gated ion channel subunit A, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CngA",
                    "type": "recommended"
                },
                {
                    "name": "CG15709",
                    "type": "synonym"
                },
                {
                    "name": "CG42701",
                    "type": "synonym"
                },
                {
                    "name": "CG7779",
                    "type": "synonym"
                },
                {
                    "name": "CNG",
                    "type": "synonym"
                },
                {
                    "name": "CngA",
                    "type": "synonym"
                },
                {
                    "name": "Cng",
                    "type": "synonym"
                },
                {
                    "name": "DmCNGA",
                    "type": "synonym"
                },
                {
                    "name": "DmCNGC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42701",
                    "type": "synonym"
                },
                {
                    "name": "cngA",
                    "type": "synonym"
                },
                {
                    "name": "cng",
                    "type": "synonym"
                },
                {
                    "name": "dCNCalpha",
                    "type": "synonym"
                },
                {
                    "name": "dmCNGA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24278-1",
            "evidence": [
                {
                    "id": "0110007",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110007"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110007"
}