|OBO ID: DOID:0080530|
|Term Name:||granular corneal dystrophy 1||Search Ontology:|
|Definition:||A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, 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 of the corneal surface. https://omim.org/entry/121900?search=121900&highlight=121900|
|Ontology:||Human Disease (DOID:0080530)|
|is a type of:||
OTHER granular corneal dystrophy 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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