{
    "disease_id": "DOID:0060444",
    "recommended_name": {
        "id": "DOID:0060444",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060444",
        "name": "granular corneal dystrophy 2",
        "description": "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface."
    },
    "synonyms": [
        {
            "id": "DOID:0060444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "name": "CGD2",
            "description": ""
        },
        {
            "id": "DOID:0060444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "name": "avellino corneal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "name": "combined granular-lattice corneal dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "name": "corneal dystrophy, Avellino type",
            "description": ""
        },
        {
            "id": "DOID:0060444",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "name": "granular corneal dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "granular corneal dystrophy type II",
            "description": "Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment."
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "Avellino corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "CGD2",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "GCD2",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "GCDII",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "avellino corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "combined granular-lattice corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "granular corneal dystrophy type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "granular-lattice corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "ACD",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "CDA",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "combined granular-lattice corneal dystrophies",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "corneal dystrophy Avellino type",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "corneal dystrophy, AVELLINO type",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "granular and lattice corneal dystrophies",
            "description": ""
        },
        {
            "id": "MONDO:0011855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "name": "granular-lattice (Avellino) corneal dystrophy",
            "description": ""
        },
        {
            "id": "MIM:607541",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607541",
            "name": "Corneal dystrophy, Avellino type",
            "description": "Corneal dystrophy, Avellino type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060444"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060444",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060444",
            "categories": []
        },
        {
            "id": "MONDO:0011855",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011855",
            "categories": []
        },
        {
            "id": "MIM:607541",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607541",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P82198-1",
            "uniprot_ac": "P82198",
            "uniprot_id": "BGH3_MOUSE",
            "refseq_ac": "NP_033395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor-beta-induced protein ig-h3",
                    "type": "recommended"
                },
                {
                    "name": "Beta ig-h3",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta induced, 68 kDa",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfbi",
                    "type": "recommended"
                },
                {
                    "name": "68kDa",
                    "type": "synonym"
                },
                {
                    "name": "Beta-ig",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbi",
                    "type": "synonym"
                },
                {
                    "name": "big-h3",
                    "type": "synonym"
                }
            ],
            "record_id": "P82198-1",
            "evidence": [
                {
                    "id": "0060444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15582-1",
            "uniprot_ac": "Q15582",
            "uniprot_id": "BGH3_HUMAN",
            "refseq_ac": "NP_000349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor-beta-induced protein ig-h3",
                    "type": "recommended"
                },
                {
                    "name": "Beta ig-h3",
                    "type": "synonym"
                },
                {
                    "name": "Kerato-epithelin",
                    "type": "synonym"
                },
                {
                    "name": "RGD-CAP",
                    "type": "synonym"
                },
                {
                    "name": "RGD-containing collagen-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "beta ig-h3",
                    "type": "synonym"
                },
                {
                    "name": "betaig-h3",
                    "type": "synonym"
                },
                {
                    "name": "kerato-epithelin",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor beta-induced 68kDa",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor, beta-induced, 68kD",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TGFBI",
                    "type": "recommended"
                },
                {
                    "name": "BIGH3",
                    "type": "synonym"
                },
                {
                    "name": "CDB1",
                    "type": "synonym"
                },
                {
                    "name": "CDG2",
                    "type": "synonym"
                },
                {
                    "name": "CDGG1",
                    "type": "synonym"
                },
                {
                    "name": "CSD1",
                    "type": "synonym"
                },
                {
                    "name": "CSD2",
                    "type": "synonym"
                },
                {
                    "name": "CSD3",
                    "type": "synonym"
                },
                {
                    "name": "CSD",
                    "type": "synonym"
                },
                {
                    "name": "EBMD",
                    "type": "synonym"
                },
                {
                    "name": "LCD1",
                    "type": "synonym"
                },
                {
                    "name": "TGFBI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15582-1",
            "evidence": [
                {
                    "id": "607541",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607541"
                },
                {
                    "id": "0060444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07895-1",
            "uniprot_ac": "Q07895",
            "uniprot_id": "YL001_YEAST",
            "refseq_ac": "NP_013101",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS1 domain-containing protein YLR001C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "L1388",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07895-1",
            "evidence": [
                {
                    "id": "0060444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A8G5-1",
            "uniprot_ac": "D4A8G5",
            "uniprot_id": "D4A8G5_RAT",
            "refseq_ac": "NP_446254",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transforming growth factor-beta-induced protein ig-h3",
                    "type": "recommended"
                },
                {
                    "name": "transforming growth factor, beta induced, 68 kDa",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transforming growth factor-beta-induced protein ig-h3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tgfbi",
                    "type": "recommended"
                },
                {
                    "name": "BIGH3",
                    "type": "synonym"
                },
                {
                    "name": "Big-h3",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbi",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A8G5-1",
            "evidence": [
                {
                    "id": "0060444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060444"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86B94-1",
            "uniprot_ac": "Q86B94",
            "uniprot_id": "Q86B94_DROME",
            "refseq_ac": "NP_788655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3359-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Midline fasciclin, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Af",
                    "type": "synonym"
                },
                {
                    "name": "mfas-PJ",
                    "type": "synonym"
                },
                {
                    "name": "midline fasciclin, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "midline fasciclin",
                    "type": "synonym"
                },
                {
                    "name": "midline fascilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfas",
                    "type": "recommended"
                },
                {
                    "name": "7",
                    "type": "synonym"
                },
                {
                    "name": "87A7-9/7",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH06752",
                    "type": "synonym"
                },
                {
                    "name": "CG3359",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3359",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3359",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0260745",
                    "type": "synonym"
                },
                {
                    "name": "Mfas",
                    "type": "synonym"
                },
                {
                    "name": "anon-87Af",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-97",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.174",
                    "type": "synonym"
                },
                {
                    "name": "clone 97",
                    "type": "synonym"
                },
                {
                    "name": "gh06752",
                    "type": "synonym"
                },
                {
                    "name": "mfas",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86B94-1",
            "evidence": [
                {
                    "id": "0060444",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060444"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060444"
}