{
    "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": []
}