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DO Term : granular corneal dystrophy 1 [DOID:0080530] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 121900,
  • corneal dystrophy, Groenouw type I,
  • OMIM:121900
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