{
    "disease_id": "DOID:0081025",
    "recommended_name": {
        "id": "DOID:0081025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081025",
        "name": "achromatopsia 6",
        "description": "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081025",
            "name": "retinal cone dystrophy 3A",
            "description": ""
        },
        {
            "id": "MONDO:0012398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "name": "achromatopsia 6",
            "description": "Any achromatopsia caused by a mutation in the PDE6H gene, characterized by incomplete loss of color vision, with a red-green color vision defect and normal or near-normal blue-yellow vision. Reduced visual acuity is also present, but not progressive."
        },
        {
            "id": "MONDO:0012398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "name": "ACHM6",
            "description": ""
        },
        {
            "id": "MONDO:0012398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "name": "RCD3A",
            "description": ""
        },
        {
            "id": "MONDO:0012398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "name": "retinal cone dystrophy 3A",
            "description": ""
        },
        {
            "id": "MONDO:0012398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "name": "retinal cone dystrophy type 3A",
            "description": ""
        },
        {
            "id": "MIM:610024",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610024",
            "name": "Achromatopsia 6",
            "description": "Achromatopsia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081025",
            "categories": []
        },
        {
            "id": "MONDO:0012398",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012398",
            "categories": []
        },
        {
            "id": "MIM:610024",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610024",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58JSV2-1",
            "uniprot_ac": "A0AC58JSV2",
            "uniprot_id": "A0AC58JSV2_DANRE",
            "refseq_ac": "NP_001292483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6H, cGMP-specific, cone, gamma, paralog a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde6ha.1",
                    "type": "recommended"
                },
                {
                    "name": "LOC110437775",
                    "type": "synonym"
                },
                {
                    "name": "pde6ha.2",
                    "type": "synonym"
                },
                {
                    "name": "pde6ha",
                    "type": "synonym"
                },
                {
                    "name": "pde6h",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73310",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58JSV2-1",
            "evidence": [
                {
                    "id": "0081025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61249-1",
            "uniprot_ac": "P61249",
            "uniprot_id": "CNCG_MOUSE",
            "refseq_ac": "NP_076387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "cone phosphodiesterase 6 gamma",
                    "type": "synonym"
                },
                {
                    "name": "cone-like cGMP-phosphodiesterase 6 gamma subunit type 2",
                    "type": "synonym"
                },
                {
                    "name": "retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6h",
                    "type": "recommended"
                },
                {
                    "name": "A930033D18Rik",
                    "type": "synonym"
                },
                {
                    "name": "PDEgamma",
                    "type": "synonym"
                },
                {
                    "name": "Pde6h",
                    "type": "synonym"
                }
            ],
            "record_id": "P61249-1",
            "evidence": [
                {
                    "id": "0081025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13956-1",
            "uniprot_ac": "Q13956",
            "uniprot_id": "CNCG_HUMAN",
            "refseq_ac": "NP_006196",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6H, cGMP-specific, cone, gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE6H",
                    "type": "recommended"
                },
                {
                    "name": "ACHM6",
                    "type": "synonym"
                },
                {
                    "name": "PDE6H",
                    "type": "synonym"
                },
                {
                    "name": "RCD3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13956-1",
            "evidence": [
                {
                    "id": "610024",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610024"
                },
                {
                    "id": "0081025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61250-1",
            "uniprot_ac": "P61250",
            "uniprot_id": "CNCG_RAT",
            "refseq_ac": "NP_446140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.35",
                    "type": "synonym"
                },
                {
                    "name": "GMP-PDE gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6G, cGMP-specific, rod, gamma",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 6H, cGMP-specific, cone, gamma",
                    "type": "synonym"
                },
                {
                    "name": "retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde6h",
                    "type": "recommended"
                },
                {
                    "name": "Pde6g",
                    "type": "synonym"
                },
                {
                    "name": "Pde6h",
                    "type": "synonym"
                }
            ],
            "record_id": "P61250-1",
            "evidence": [
                {
                    "id": "0081025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081025"
}