{
    "disease_id": "DOID:0060453",
    "recommended_name": {
        "id": "DOID:0060453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060453",
        "name": "Reis-Bucklers corneal dystrophy",
        "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."
    },
    "synonyms": [
        {
            "id": "DOID:0060453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060453",
            "name": "RBCD",
            "description": ""
        },
        {
            "id": "DOID:0060453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060453",
            "name": "anterior limiting membrane dystrophy type I",
            "description": ""
        },
        {
            "id": "DOID:0060453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060453",
            "name": "corneal dystrophy of Bowman layer type I",
            "description": ""
        },
        {
            "id": "DOID:0060453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060453",
            "name": "geographic corneal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060453",
            "name": "granular corneal dystrophy type III",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "Reis-Bucklers corneal dystrophy",
            "description": "Reis-Bcklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment."
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "RBCD",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "Reis-Bucklers corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "anterior limiting membrane dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "anterior limiting membrane dystrophy type I",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "atypical granular corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "corneal dystrophy of Bowman layer type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "corneal dystrophy of Bowman layer type I",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "geographic corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "granular corneal dystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "granular corneal dystrophy type III",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "superficial granular corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "CDB1",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "CDRB",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "Reis Bucklers corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "Reis Bucklers dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "corneal dystrophy Reis Bucklers type",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "corneal dystrophy geographic",
            "description": ""
        },
        {
            "id": "MONDO:0012043",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012043",
            "name": "corneal dystrophy, REIS-Bucklers type",
            "description": ""
        },
        {
            "id": "MIM:608470",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608470",
            "name": "Corneal dystrophy, Reis-Bucklers type",
            "description": "Corneal dystrophy, Reis-Bucklers type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060453"
    ],
    "unlinked_id_list": []
}