{
    "disease_id": "DOID:0060455",
    "recommended_name": {
        "id": "DOID:0060455",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060455",
        "name": "Thiel-Behnke corneal dystrophy",
        "description": "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of 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:0060455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060455",
            "name": "TBCD",
            "description": ""
        },
        {
            "id": "DOID:0060455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060455",
            "name": "Waardenburg-Jonker corneal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060455",
            "name": "anterior limiting membrane dystrophy type II",
            "description": ""
        },
        {
            "id": "DOID:0060455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060455",
            "name": "corneal dystrophy honeycomb-shaped",
            "description": ""
        },
        {
            "id": "DOID:0060455",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060455",
            "name": "corneal dystrophy of Bowman layer type II",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "Thiel-Behnke corneal dystrophy",
            "description": "Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment."
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "TBCD",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "Thiel-Behnke corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "Waardenburg-Jonker corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "anterior limiting membrane dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "anterior limiting membrane dystrophy type II",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy honeycomb-shaped",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy of Bowman layer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy of Bowman layer type II",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "curly fiber corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "curly fibre corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "honeycomb corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "CDB2",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "CDTB",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "Thiel Behnke corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy Thiel Behnke type",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy honeycomb shaped",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy of Bowman Layer, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy of the Bowman layer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy, Thiel-Behnke type",
            "description": ""
        },
        {
            "id": "MONDO:0011185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011185",
            "name": "corneal dystrophy, honeycomb-Shaped",
            "description": ""
        },
        {
            "id": "MIM:602082",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602082",
            "name": "Corneal dystrophy, Thiel-Behnke type",
            "description": "Corneal dystrophy, Thiel-Behnke type"
        }
    ]
}