{
    "disease_id": "DOID:0060745",
    "recommended_name": {
        "id": "DOID:0060745",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060745",
        "name": "Doyne honeycomb retinal dystrophy",
        "description": "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "DOID:0060745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060745",
            "name": "DHRD",
            "description": ""
        },
        {
            "id": "DOID:0060745",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060745",
            "name": "Doyne honeycomb degeneration of retina",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "Doyne honeycomb retinal dystrophy",
            "description": "Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner."
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "DHRD",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "Doyne honeycomb degeneration of retina",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "Doyne honeycomb retinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "Malattia leventinese",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "dominant drusen",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "dominant radial drusen",
            "description": ""
        },
        {
            "id": "MONDO:0007471",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007471",
            "name": "DHD",
            "description": ""
        },
        {
            "id": "MIM:126600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/126600",
            "name": "Doyne honeycomb retinal dystrophy",
            "description": "Doyne honeycomb retinal dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060745"
    ],
    "unlinked_id_list": []
}