{
    "disease_id": "DOID:0110010",
    "recommended_name": {
        "id": "DOID:0110010",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110010",
        "name": "achromatopsia 4",
        "description": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110010",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110010",
            "name": "ACHM4",
            "description": ""
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "achromatopsia 4",
            "description": "Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene."
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "ACHM4",
            "description": ""
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "GNAT2 achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "achromatopsia 4",
            "description": ""
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "achromatopsia caused by mutation in GNAT2",
            "description": ""
        },
        {
            "id": "MONDO:0013465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "name": "achromatopsia type 4",
            "description": ""
        },
        {
            "id": "MIM:613856",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613856",
            "name": "Achromatopsia 4",
            "description": "Achromatopsia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110010"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110010",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110010",
            "categories": []
        },
        {
            "id": "MONDO:0013465",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013465",
            "categories": []
        },
        {
            "id": "MIM:613856",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613856",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P50149-1",
            "uniprot_ac": "P50149",
            "uniprot_id": "GNAT2_MOUSE",
            "refseq_ac": "NP_032167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(t) subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Transducin alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha transducing 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(t) subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1d",
                    "type": "synonym"
                },
                {
                    "name": "transducin alpha-2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnat2",
                    "type": "recommended"
                },
                {
                    "name": "Gnat-2",
                    "type": "synonym"
                },
                {
                    "name": "Gnat2",
                    "type": "synonym"
                },
                {
                    "name": "Gt-2",
                    "type": "synonym"
                },
                {
                    "name": "Hg1d",
                    "type": "synonym"
                },
                {
                    "name": "Tcalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P50149-1",
            "evidence": [
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19087-1",
            "uniprot_ac": "P19087",
            "uniprot_id": "GNAT2_HUMAN",
            "refseq_ac": "NP_005263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein G(t) subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Transducin alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "cone-type transducin alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(t) subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "heterotrimeric guanine nucleotide-binding protein 1D",
                    "type": "synonym"
                },
                {
                    "name": "transducin alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "transducin, cone-specific, alpha polypeptide",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNAT2",
                    "type": "recommended"
                },
                {
                    "name": "ACHM4",
                    "type": "synonym"
                },
                {
                    "name": "GNAT2",
                    "type": "synonym"
                },
                {
                    "name": "GNATC",
                    "type": "synonym"
                },
                {
                    "name": "HG1D",
                    "type": "synonym"
                }
            ],
            "record_id": "P19087-1",
            "evidence": [
                {
                    "id": "613856",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613856"
                },
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08539-1",
            "uniprot_ac": "P08539",
            "uniprot_id": "GPA1_YEAST",
            "refseq_ac": "NP_011868",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-1 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP1-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPA1",
                    "type": "recommended"
                },
                {
                    "name": "CDC70",
                    "type": "synonym"
                },
                {
                    "name": "DAC1",
                    "type": "synonym"
                },
                {
                    "name": "GPA1",
                    "type": "synonym"
                },
                {
                    "name": "SCG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08539-1",
            "evidence": [
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10823-1",
            "uniprot_ac": "P10823",
            "uniprot_id": "GPA2_YEAST",
            "refseq_ac": "NP_010937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanine nucleotide-binding protein alpha-2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "GP2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPA2",
                    "type": "recommended"
                },
                {
                    "name": "GPA2",
                    "type": "synonym"
                },
                {
                    "name": "SSP101",
                    "type": "synonym"
                }
            ],
            "record_id": "P10823-1",
            "evidence": [
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AA42-1",
            "uniprot_ac": "D4AA42",
            "uniprot_id": "D4AA42_RAT",
            "refseq_ac": "NP_001102420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein subunit alpha transducin 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha transducing 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide binding protein, alpha transducing 2",
                    "type": "synonym"
                },
                {
                    "name": "guanine nucleotide-binding protein G(t) subunit alpha-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnat2",
                    "type": "recommended"
                },
                {
                    "name": "Gnat2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AA42-1",
            "evidence": [
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20353-1",
            "uniprot_ac": "P20353",
            "uniprot_id": "GNAI_DROME",
            "refseq_ac": "NP_477502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "G protein alpha i subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG10060-PA",
                    "type": "synonym"
                },
                {
                    "name": "G protein I a-subunit 65A",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha i subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha o subunit 65A",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha subunit i",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alphai subunit 65A",
                    "type": "synonym"
                },
                {
                    "name": "G protein alphai subunit",
                    "type": "synonym"
                },
                {
                    "name": "G protein alphao subunit 65A",
                    "type": "synonym"
                },
                {
                    "name": "Galphai-PA",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide-binding protein G(i) subunit alpha 65A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galphai",
                    "type": "recommended"
                },
                {
                    "name": "CG10060",
                    "type": "synonym"
                },
                {
                    "name": "DG[[alpha1]]",
                    "type": "synonym"
                },
                {
                    "name": "DGalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10060",
                    "type": "synonym"
                },
                {
                    "name": "G(alphai)",
                    "type": "synonym"
                },
                {
                    "name": "G-OA65C",
                    "type": "synonym"
                },
                {
                    "name": "G-alpha-65A",
                    "type": "synonym"
                },
                {
                    "name": "G-ia65A",
                    "type": "synonym"
                },
                {
                    "name": "G-ialpha65A",
                    "type": "synonym"
                },
                {
                    "name": "G-ialpha65a",
                    "type": "synonym"
                },
                {
                    "name": "G-oalpha65A",
                    "type": "synonym"
                },
                {
                    "name": "GNAI1/2/3",
                    "type": "synonym"
                },
                {
                    "name": "G[[alphai]]",
                    "type": "synonym"
                },
                {
                    "name": "G[[i]]alpha",
                    "type": "synonym"
                },
                {
                    "name": "G[[i]]",
                    "type": "synonym"
                },
                {
                    "name": "Gai",
                    "type": "synonym"
                },
                {
                    "name": "Galpha i",
                    "type": "synonym"
                },
                {
                    "name": "Galpha65A",
                    "type": "synonym"
                },
                {
                    "name": "GalphaI",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[i65A]]",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[i]]65A",
                    "type": "synonym"
                },
                {
                    "name": "Galpha[[i]]",
                    "type": "synonym"
                },
                {
                    "name": "Galphai/o",
                    "type": "synonym"
                },
                {
                    "name": "Galphaiota65A",
                    "type": "synonym"
                },
                {
                    "name": "Galphai",
                    "type": "synonym"
                },
                {
                    "name": "Gi-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Gialpha",
                    "type": "synonym"
                },
                {
                    "name": "Gi",
                    "type": "synonym"
                },
                {
                    "name": "galphai",
                    "type": "synonym"
                },
                {
                    "name": "i",
                    "type": "synonym"
                }
            ],
            "record_id": "P20353-1",
            "evidence": [
                {
                    "id": "0110010",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110010"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110010"
}