|OBO ID: DOID:8943|
|Term Name:||lattice corneal dystrophy||Search Ontology:|
|Definition:||An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior 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 located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. (2)|
|Ontology:||Human Disease (DOID:8943)|
|is a type of:||
OTHER lattice corneal dystrophy PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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