{
    "disease_id": "DOID:0110009",
    "recommended_name": {
        "id": "DOID:0110009",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110009",
        "name": "achromatopsia 7",
        "description": "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110009",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110009",
            "name": "ACHM7",
            "description": ""
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "achromatopsia 7",
            "description": "Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene."
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "ACHM7",
            "description": ""
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "ATF6 achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "achromatopsia 7",
            "description": ""
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "achromatopsia caused by mutation in ATF6",
            "description": ""
        },
        {
            "id": "MONDO:0014677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "name": "achromatopsia type 7",
            "description": ""
        },
        {
            "id": "MIM:616517",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616517",
            "name": "Achromatopsia 7",
            "description": "Achromatopsia 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110009"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110009",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110009",
            "categories": []
        },
        {
            "id": "MONDO:0014677",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014677",
            "categories": []
        },
        {
            "id": "MIM:616517",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616517",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RH85-1",
            "uniprot_ac": "Q5RH85",
            "uniprot_id": "Q5RH85_DANRE",
            "refseq_ac": "NP_001103989",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atf6",
                    "type": "recommended"
                },
                {
                    "name": "atf6",
                    "type": "synonym"
                },
                {
                    "name": "fi12h10",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-199m3.9",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-260g14.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi12h10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RH85-1",
            "evidence": [
                {
                    "id": "0110009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F6VAN0-1",
            "uniprot_ac": "F6VAN0",
            "uniprot_id": "ATF6A_MOUSE",
            "refseq_ac": "NP_001074773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "recommended"
                },
                {
                    "name": "ATF6-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Activating transcription factor 6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "activating transcription factor 6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atf6",
                    "type": "recommended"
                },
                {
                    "name": "9130025P16Rik",
                    "type": "synonym"
                },
                {
                    "name": "9630036G24",
                    "type": "synonym"
                },
                {
                    "name": "Atf6alpha",
                    "type": "synonym"
                },
                {
                    "name": "Atf6",
                    "type": "synonym"
                },
                {
                    "name": "ESTM49",
                    "type": "synonym"
                }
            ],
            "record_id": "F6VAN0-1",
            "evidence": [
                {
                    "id": "0110009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18850-1",
            "uniprot_ac": "P18850",
            "uniprot_id": "ATF6A_HUMAN",
            "refseq_ac": "NP_031374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "recommended"
                },
                {
                    "name": "ATF6-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Activating transcription factor 6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATF6",
                    "type": "recommended"
                },
                {
                    "name": "ACHM7",
                    "type": "synonym"
                },
                {
                    "name": "ATF6A",
                    "type": "synonym"
                },
                {
                    "name": "ATF6",
                    "type": "synonym"
                },
                {
                    "name": "ATP6alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P18850-1",
            "evidence": [
                {
                    "id": "616517",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616517"
                },
                {
                    "id": "0110009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110009"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V909-1",
            "uniprot_ac": "G3V909",
            "uniprot_id": "ATF6A_RAT",
            "refseq_ac": "NP_001100666",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "recommended"
                },
                {
                    "name": "ATF6-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Activating transcription factor 6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "activating transcription factor 6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cAMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                },
                {
                    "name": "cyclic AMP-dependent transcription factor ATF-6 alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atf6",
                    "type": "recommended"
                },
                {
                    "name": "Atf6",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V909-1",
            "evidence": [
                {
                    "id": "0110009",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110009"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110009"
}