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Summary Literature (0)
DOID:0060444 - granular corneal dystrophy 2

Disease 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.

Synonyms: CGD2, avellino corneal dystrophy, combined granular-lattice corneal dystrophy, corneal dystrophy, Avellino type, granular corneal dystrophy type 2,

Xenbase Genes : tgfbi

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011855 - granular corneal dystrophy type II


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): epithelial-stromal TGFBI dystrophy (is_a), granular corneal dystrophy (is_a)