{
    "disease_id": "DOID:0050679",
    "recommended_name": {
        "id": "DOID:0050679",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050679",
        "name": "blue cone monochromacy",
        "description": "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster."
    },
    "synonyms": [
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "blue cone monochromacy",
            "description": "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia."
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "S cone monochromacy",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "S cone monochromatism",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "X-linked incomplete achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "atypical X-linked achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "blue cone monochromacy",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "blue cone monochromacy, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "blue cone monochromatism",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "color blindness, blue monocone monochromatic type",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "colour blindness, blue monocone monochromatic type",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "BCM",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "CBBM",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "X-chromosome-linked achromatopsia",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "X-linked achromatopsia incomplete",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "achromatopsia incomplete X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "color blindness blue mono cone monochromatic type",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "colour blindness blue mono cone monochromatic type",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "incomplete achromatopsia X-linked",
            "description": ""
        },
        {
            "id": "MIM:303700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/303700",
            "name": "Blue cone monochromacy",
            "description": "Blue cone monochromacy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050679"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050679",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050679",
            "categories": []
        },
        {
            "id": "MONDO:0010563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "categories": []
        },
        {
            "id": "MIM:303700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/303700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8AYN0-1",
            "uniprot_ac": "Q8AYN0",
            "uniprot_id": "OPSR2_DANRE",
            "refseq_ac": "NP_001002443",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Red-sensitive opsin-2",
                    "type": "recommended"
                },
                {
                    "name": "Opsin LWS-2",
                    "type": "synonym"
                },
                {
                    "name": "Opsin-1, long-wave-sensitive 2",
                    "type": "synonym"
                },
                {
                    "name": "Red cone photoreceptor pigment 2",
                    "type": "synonym"
                },
                {
                    "name": "long-wavelength-sensitive-2 cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "opsin LWS-2",
                    "type": "synonym"
                },
                {
                    "name": "opsin-1, long-wave-sensitive 2",
                    "type": "synonym"
                },
                {
                    "name": "red cone photoreceptor pigment 2",
                    "type": "synonym"
                },
                {
                    "name": "red-sensitive opsin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opn1lw2",
                    "type": "recommended"
                },
                {
                    "name": "lws2up",
                    "type": "synonym"
                },
                {
                    "name": "lws2",
                    "type": "synonym"
                },
                {
                    "name": "opn1lw2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92632",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AYN0-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W6A7-1",
            "uniprot_ac": "Q9W6A7",
            "uniprot_id": "OPSR1_DANRE",
            "refseq_ac": "NP_001300644",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Red-sensitive opsin-1",
                    "type": "recommended"
                },
                {
                    "name": "LC opsin",
                    "type": "synonym"
                },
                {
                    "name": "Opsin LWS-1",
                    "type": "synonym"
                },
                {
                    "name": "Opsin-1, long-wave-sensitive 1",
                    "type": "synonym"
                },
                {
                    "name": "Red cone photoreceptor pigment 1",
                    "type": "synonym"
                },
                {
                    "name": "long-wavelength-sensitive-1 cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "red cone photoreceptor pigment 1",
                    "type": "synonym"
                },
                {
                    "name": "red-sensitive opsin-1",
                    "type": "synonym"
                },
                {
                    "name": "red-sensitive opsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opn1lw1",
                    "type": "recommended"
                },
                {
                    "name": "LWS-1",
                    "type": "synonym"
                },
                {
                    "name": "lws1up",
                    "type": "synonym"
                },
                {
                    "name": "lws1",
                    "type": "synonym"
                },
                {
                    "name": "opn1lw1",
                    "type": "synonym"
                },
                {
                    "name": "rdops",
                    "type": "synonym"
                },
                {
                    "name": "zfred",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W6A7-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35599-1",
            "uniprot_ac": "O35599",
            "uniprot_id": "OPSG_MOUSE",
            "refseq_ac": "NP_032132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-wave-sensitive opsin 1",
                    "type": "recommended"
                },
                {
                    "name": "G/R opsin",
                    "type": "synonym"
                },
                {
                    "name": "Green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "M opsin",
                    "type": "synonym"
                },
                {
                    "name": "MWS opsin",
                    "type": "synonym"
                },
                {
                    "name": "Medium wavelength-sensitive cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "R/G opsin",
                    "type": "synonym"
                },
                {
                    "name": "green LWS photopigment",
                    "type": "synonym"
                },
                {
                    "name": "green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "green long wavelength sensitive cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium wavelength-sensitive cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium-wave-sensitive opsin 1",
                    "type": "synonym"
                },
                {
                    "name": "midwavelength sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), long-wave-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "red sensitive visual pigment",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opn1mw",
                    "type": "recommended"
                },
                {
                    "name": "Gcp",
                    "type": "synonym"
                },
                {
                    "name": "ML-opsin",
                    "type": "synonym"
                },
                {
                    "name": "Opn1lw",
                    "type": "synonym"
                },
                {
                    "name": "Opn1mw",
                    "type": "synonym"
                },
                {
                    "name": "Rsvp",
                    "type": "synonym"
                }
            ],
            "record_id": "O35599-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04000-1",
            "uniprot_ac": "P04000",
            "uniprot_id": "OPSR_HUMAN",
            "refseq_ac": "NP_064445",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Long-wave-sensitive opsin 1",
                    "type": "recommended"
                },
                {
                    "name": "ROP",
                    "type": "synonym"
                },
                {
                    "name": "Red cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Red-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "cone dystrophy 5 (X-linked)",
                    "type": "synonym"
                },
                {
                    "name": "long-wave-sensitive opsin 1",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), long-wave-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "red cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "red cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "red-sensitive opsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPN1LW",
                    "type": "recommended"
                },
                {
                    "name": "CBBM",
                    "type": "synonym"
                },
                {
                    "name": "CBP",
                    "type": "synonym"
                },
                {
                    "name": "COD5",
                    "type": "synonym"
                },
                {
                    "name": "OPN1LW",
                    "type": "synonym"
                },
                {
                    "name": "RCP",
                    "type": "synonym"
                },
                {
                    "name": "ROP",
                    "type": "synonym"
                }
            ],
            "record_id": "P04000-1",
            "evidence": [
                {
                    "id": "303700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/303700"
                },
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04001-1",
            "uniprot_ac": "P04001",
            "uniprot_id": "OPSG_HUMAN",
            "refseq_ac": "NP_000504",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-wave-sensitive opsin 1",
                    "type": "recommended"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "Green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "cone dystrophy 5 (X-linked)",
                    "type": "synonym"
                },
                {
                    "name": "green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "green cone pigment",
                    "type": "synonym"
                },
                {
                    "name": "green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium-wave-sensitive opsin 1",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), medium-wave-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "photopigment apoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPN1MW2",
                    "type": "recommended"
                },
                {
                    "name": "OPN1MW",
                    "type": "recommended"
                },
                {
                    "name": "CBBM",
                    "type": "synonym"
                },
                {
                    "name": "CBD",
                    "type": "synonym"
                },
                {
                    "name": "COD5",
                    "type": "synonym"
                },
                {
                    "name": "GCP",
                    "type": "synonym"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "OPN1MW1",
                    "type": "synonym"
                },
                {
                    "name": "OPN1MW",
                    "type": "synonym"
                }
            ],
            "record_id": "P04001-1",
            "evidence": [
                {
                    "id": "303700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/303700"
                },
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35476-1",
            "uniprot_ac": "O35476",
            "uniprot_id": "OPSG_RAT",
            "refseq_ac": "NP_446000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-wave-sensitive opsin 1",
                    "type": "recommended"
                },
                {
                    "name": "Green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "Medium wavelength-sensitive cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium wavelength-sensitive cone opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium-wave-sensitive opsin 1",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan), green opsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Opn1mw",
                    "type": "recommended"
                },
                {
                    "name": "Gcp",
                    "type": "synonym"
                },
                {
                    "name": "Opn1mw",
                    "type": "synonym"
                }
            ],
            "record_id": "O35476-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DN77-1",
            "uniprot_ac": "P0DN77",
            "uniprot_id": "OPSG2_HUMAN",
            "refseq_ac": "NP_001041646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-wave-sensitive opsin 2",
                    "type": "recommended"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "Green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "Opsin 1 cone pigments medium-wave-sensitive 2",
                    "type": "synonym"
                },
                {
                    "name": "green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium-wave-sensitive opsin 2",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), medium-wave-sensitive 2",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 cone pigments medium-wave-sensitive 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPN1MW2",
                    "type": "recommended"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "OPN1MW2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DN77-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DN78-1",
            "uniprot_ac": "P0DN78",
            "uniprot_id": "OPSG3_HUMAN",
            "refseq_ac": "NP_001316996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Medium-wave-sensitive opsin 3",
                    "type": "recommended"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "Green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "Green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "green cone photoreceptor pigment",
                    "type": "synonym"
                },
                {
                    "name": "green-sensitive opsin",
                    "type": "synonym"
                },
                {
                    "name": "medium-wave-sensitive opsin 3",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 (cone pigments), medium-wave-sensitive 3",
                    "type": "synonym"
                },
                {
                    "name": "opsin 1 cone pigments medium-wave-sensitive 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPN1MW3",
                    "type": "recommended"
                },
                {
                    "name": "GCP",
                    "type": "synonym"
                },
                {
                    "name": "GOP",
                    "type": "synonym"
                },
                {
                    "name": "OPN1MW3",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DN78-1",
            "evidence": [
                {
                    "id": "0050679",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050679"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050679"
}