{
    "disease_id": "DOID:0080314",
    "recommended_name": {
        "id": "DOID:0080314",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080314",
        "name": "cone-rod dystrophy 14",
        "description": "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "cone dystrophy 3",
            "description": "Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene."
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "GUCA1A cone dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "cone dystrophy 3",
            "description": ""
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "cone dystrophy caused by mutation in GUCA1A",
            "description": ""
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "cone dystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "cone dystrophy-3",
            "description": ""
        },
        {
            "id": "MONDO:0011193",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "name": "COD3",
            "description": ""
        },
        {
            "id": "MIM:602093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602093",
            "name": "Cone dystrophy 3",
            "description": "Cone dystrophy 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080314"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080314",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080314",
            "categories": []
        },
        {
            "id": "MONDO:0011193",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011193",
            "categories": []
        },
        {
            "id": "MIM:602093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZP3-1",
            "uniprot_ac": "A0A8N7UZP3",
            "uniprot_id": "A0A8N7UZP3_DANRE",
            "refseq_ac": "NP_571945",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase activator 1A",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "guca1aa",
                    "type": "recommended"
                },
                {
                    "name": "gcap1",
                    "type": "synonym"
                },
                {
                    "name": "guca1aa",
                    "type": "synonym"
                },
                {
                    "name": "guca1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZP3-1",
            "evidence": [
                {
                    "id": "0080314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43081-1",
            "uniprot_ac": "P43081",
            "uniprot_id": "GUC1A_MOUSE",
            "refseq_ac": "NP_032215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GCAP 1",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase activator 1A",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guca1a",
                    "type": "recommended"
                },
                {
                    "name": "GC-A",
                    "type": "synonym"
                },
                {
                    "name": "Gcap1",
                    "type": "synonym"
                },
                {
                    "name": "Gcap",
                    "type": "synonym"
                },
                {
                    "name": "Guca1a",
                    "type": "synonym"
                },
                {
                    "name": "Guca1",
                    "type": "synonym"
                },
                {
                    "name": "mGCAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43081-1",
            "evidence": [
                {
                    "id": "0080314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43080-1",
            "uniprot_ac": "P43080",
            "uniprot_id": "GUC1A_HUMAN",
            "refseq_ac": "NP_000400",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GCAP 1",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase activator 1A",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUCA1A",
                    "type": "recommended"
                },
                {
                    "name": "C6orf131",
                    "type": "synonym"
                },
                {
                    "name": "GCAP1",
                    "type": "synonym"
                },
                {
                    "name": "GCAP",
                    "type": "synonym"
                },
                {
                    "name": "GUCA1ANB-GUCA1A",
                    "type": "synonym"
                },
                {
                    "name": "GUCA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P43080-1",
            "evidence": [
                {
                    "id": "602093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602093"
                },
                {
                    "id": "0080314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080314"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZII9-1",
            "uniprot_ac": "D3ZII9",
            "uniprot_id": "D3ZII9_RAT",
            "refseq_ac": "NP_001100357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylyl cyclase-activating protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Guanylate cyclase activator 1A",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase activator 1a (retina)",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase-activating protein, photoreceptor 1",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-activating protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Guca1a",
                    "type": "recommended"
                },
                {
                    "name": "GCAP1",
                    "type": "synonym"
                },
                {
                    "name": "Guca1a",
                    "type": "synonym"
                },
                {
                    "name": "p19",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZII9-1",
            "evidence": [
                {
                    "id": "0080314",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080314"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080314"
}