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Summary Literature (0)
DOID:0060453 - Reis-Bucklers corneal dystrophy

Disease Ontology Definition: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: anterior limiting membrane dystrophy type I, corneal dystrophy of Bowman layer type I, geographic corneal dystrophy, granular corneal dystrophy type III, RBCD

Xenbase Genes : tgfbi

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012043 - Reis-Bucklers corneal dystrophy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): epithelial-stromal TGFBI dystrophy (is_a)