OBO ID: DOID:0060444
Term Name: granular corneal dystrophy 2 Search Ontology:
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 granular corneal dystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFBI Corneal dystrophy, Avellino type 607541
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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