Search Ontology:
Human Disease

granular corneal dystrophy 2

Term ID
DOID:0060444
Synonyms
  • avellino corneal dystrophy
  • CGD2
  • combined granular-lattice corneal dystrophy
  • corneal dystrophy, Avellino type
  • granular corneal dystrophy type 2
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)
References
Ontology
Human Disease   ( DOID:0060444 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models