DO_rare_slim has material basis in autosomal dominant disease epithelial-stromal TGFBI dystrophy Thiel-Behnke corneal dystrophy ORDO:98960 MESH:C535942 disease_ontology 2015-10-16T17:57:16Z DOID:0060455 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. UMLS_CUI:C1562894 SNOMEDCT_US_2025_09_01:417065002 MIM:602082 TBCD Waardenburg-Jonker corneal dystrophy anterior limiting membrane dystrophy type II corneal dystrophy honeycomb-shaped corneal dystrophy of Bowman layer type II autosomal dominant inheritance