{
    "disease_id": "DOID:0080530",
    "recommended_name": {
        "id": "DOID:0080530",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080530",
        "name": "granular corneal dystrophy 1",
        "description": "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, 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 of the corneal surface."
    },
    "synonyms": [
        {
            "id": "DOID:0080530",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080530",
            "name": "corneal dystrophy, Groenouw type I",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "granular corneal dystrophy type I",
            "description": "Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe."
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "GCD1",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "GCDI",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "classic GCD",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "classic granular corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy Groenouw type I",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "granular corneal dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "CDGG1",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "Groenouw type I corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy granular type",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy punctate or nodular",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy, Groenouw type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy, Groenouw type I",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "corneal dystrophy, punctate or nodular",
            "description": ""
        },
        {
            "id": "MONDO:0007377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007377",
            "name": "granular corneal dystrophy, type 1",
            "description": ""
        },
        {
            "id": "MIM:121900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/121900",
            "name": "Corneal dystrophy, Groenouw type 1",
            "description": "Corneal dystrophy, Groenouw type 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080530"
    ],
    "unlinked_id_list": []
}