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Summary Literature (0)
DOID:0060455 - Thiel-Behnke corneal dystrophy

Disease Ontology Definition: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: TBCD, Waardenburg-Jonker corneal dystrophy, anterior limiting membrane dystrophy type II, corneal dystrophy honeycomb-shaped, corneal dystrophy of Bowman layer type II,

Xenbase Genes : tgfbi

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011185 - Thiel-Behnke corneal dystrophy


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

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