{
    "disease_id": "DOID:0111011",
    "recommended_name": {
        "id": "DOID:0111011",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111011",
        "name": "cone-rod dystrophy 6",
        "description": "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111011",
            "name": "CORD6",
            "description": ""
        },
        {
            "id": "DOID:0111011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111011",
            "name": "RCD2",
            "description": ""
        },
        {
            "id": "DOID:0111011",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111011",
            "name": "retinal cone dystrophy 2",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "cone-rod dystrophy 6",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene."
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "CORD6",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "GUCY2D cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "RCD2",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "cone-rod dystrophy 6",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "cone-rod dystrophy caused by mutation in GUCY2D",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "cone-rod dystrophy type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011143",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "name": "retinal cone dystrophy 2",
            "description": ""
        },
        {
            "id": "MIM:601777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601777",
            "name": "Cone-rod dystrophy 6",
            "description": "Cone-rod dystrophy 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111011"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111011",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111011",
            "categories": []
        },
        {
            "id": "MONDO:0011143",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011143",
            "categories": []
        },
        {
            "id": "MIM:601777",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601777",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BCH5-1",
            "uniprot_ac": "A0A8M2BCH5",
            "uniprot_id": "A0A8M2BCH5_DANRE",
            "refseq_ac": "XP_005165318",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gucy2d",
                    "type": "recommended"
                },
                {
                    "name": "GUCY2d1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-3",
                    "type": "synonym"
                },
                {
                    "name": "gc3",
                    "type": "synonym"
                },
                {
                    "name": "gucy2d",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCH5-1",
            "evidence": [
                {
                    "id": "0111011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52785-1",
            "uniprot_ac": "P52785",
            "uniprot_id": "GUC2E_MOUSE",
            "refseq_ac": "NP_032218",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal guanylyl cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase 2e",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2e",
                    "type": "recommended"
                },
                {
                    "name": "GC-E",
                    "type": "synonym"
                },
                {
                    "name": "GC1",
                    "type": "synonym"
                },
                {
                    "name": "Guc2e",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2e",
                    "type": "synonym"
                },
                {
                    "name": "ROS-GC1",
                    "type": "synonym"
                }
            ],
            "record_id": "P52785-1",
            "evidence": [
                {
                    "id": "0111011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02846-1",
            "uniprot_ac": "Q02846",
            "uniprot_id": "GUC2D_HUMAN",
            "refseq_ac": "NP_000171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal guanylyl cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG-E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2D, retinal",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                },
                {
                    "name": "ROS-GC",
                    "type": "synonym"
                },
                {
                    "name": "Rod outer segment membrane guanylate cyclase",
                    "type": "synonym"
                },
                {
                    "name": "central areolar choroidal dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "cone rod dystrophy 6",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2D, membrane (retina-specific)",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylate cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1",
                    "type": "synonym"
                },
                {
                    "name": "rod outer segment membrane guanylate cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUCY2D",
                    "type": "recommended"
                },
                {
                    "name": "CACD1",
                    "type": "synonym"
                },
                {
                    "name": "CACD",
                    "type": "synonym"
                },
                {
                    "name": "CG-E",
                    "type": "synonym"
                },
                {
                    "name": "CORD5",
                    "type": "synonym"
                },
                {
                    "name": "CORD6",
                    "type": "synonym"
                },
                {
                    "name": "CSNB1I",
                    "type": "synonym"
                },
                {
                    "name": "CYGD",
                    "type": "synonym"
                },
                {
                    "name": "GUC1A4",
                    "type": "synonym"
                },
                {
                    "name": "GUC2D",
                    "type": "synonym"
                },
                {
                    "name": "GUCY2D",
                    "type": "synonym"
                },
                {
                    "name": "LCA1",
                    "type": "synonym"
                },
                {
                    "name": "LCA",
                    "type": "synonym"
                },
                {
                    "name": "RCD2",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC1",
                    "type": "synonym"
                },
                {
                    "name": "RETGC",
                    "type": "synonym"
                },
                {
                    "name": "ROS-GC1",
                    "type": "synonym"
                },
                {
                    "name": "ROSGC",
                    "type": "synonym"
                },
                {
                    "name": "retGC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02846-1",
            "evidence": [
                {
                    "id": "601777",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601777"
                },
                {
                    "id": "0111011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51840-1",
            "uniprot_ac": "P51840",
            "uniprot_id": "GUC2E_RAT",
            "refseq_ac": "NP_077356",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal guanylyl cyclase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase 2E",
                    "type": "synonym"
                },
                {
                    "name": "Guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2D, membrane (retina-specific)",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2D, retinal",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase 2e",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase GC-E",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinal guanylyl cyclase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2e",
                    "type": "recommended"
                },
                {
                    "name": "Guc2e",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2d",
                    "type": "synonym"
                },
                {
                    "name": "Gucy2e",
                    "type": "synonym"
                },
                {
                    "name": "RETGC-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51840-1",
            "evidence": [
                {
                    "id": "0111011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111011"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A4D6K026-1",
            "uniprot_ac": "A0A4D6K026",
            "uniprot_id": "A0A4D6K026_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gucy2d",
                    "type": "recommended"
                },
                {
                    "name": "CG12584",
                    "type": "synonym"
                },
                {
                    "name": "CG12585",
                    "type": "synonym"
                },
                {
                    "name": "CG14652",
                    "type": "synonym"
                },
                {
                    "name": "CG34357",
                    "type": "synonym"
                },
                {
                    "name": "CG41467",
                    "type": "synonym"
                },
                {
                    "name": "CG9783",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34357",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34357",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                },
                {
                    "name": "cg34357",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A4D6K026-1",
            "evidence": [
                {
                    "id": "0111011",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111011"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111011"
}