{
    "disease_id": "DOID:0050679",
    "recommended_name": {
        "id": "DOID:0050679",
        "resource": "Disease Ontology",
        "url": "http://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 recessive X-linked inheritance."
    },
    "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 (see this term)."
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "blue cone monochromacy; BCM",
            "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": "S cone monochromatism",
            "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": "incomplete achromatopsia X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "colorblindness, blue-Mono-cone-monochromatic type",
            "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 monochromatism",
            "description": ""
        },
        {
            "id": "MONDO:0010563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010563",
            "name": "cone dystrophy 5, X-linked",
            "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": "S cone monochromacy",
            "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": "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": "color blindness, blue monocone monochromatic type",
            "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": "color blindness blue mono cone monochromatic type",
            "description": ""
        },
        {
            "id": "MIM:303700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/303700",
            "name": "Blue cone monochromacy",
            "description": "Blue cone monochromacy"
        }
    ]
}