|OBO ID: DOID:0060444|
|Term Name:||granular corneal dystrophy 2||Search Ontology:|
|Definition:||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. (2)|
|Ontology:||Human Disease (DOID:0060444)|
|is a type of:||
OTHER granular corneal dystrophy 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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